| geneid | 132949 |
|---|---|
| ensemblid | ENSG00000157426.14 |
| hgncid | 23993 |
| symbol | AASDH |
| name | aminoadipate-semialdehyde dehydrogenase |
| refseq_nuc | NM_181806.4 |
| refseq_prot | NP_861522.2 |
| ensembl_nuc | ENST00000205214.11 |
| ensembl_prot | ENSP00000205214.6 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 56338290 |
| end | 56387491 |
| strand | - |
| ver | v1.2 |
| region | chr4:56338290-56387491 |
| region5000 | chr4:56333290-56392491 |
| regionname0 | AASDH_chr4_56338290_56387491 |
| regionname5000 | AASDH_chr4_56333290_56392491 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56349511
|
G | A | 0.2042 | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/15 | c.2240C>T | p.Ala747Val | 2412/3581 | 2240/3297 | 747/1098 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56353426
|
G | A | 0.6126 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | c.1554C>T | p.Asp518Asp | 1726/3581 | 1554/3297 | 518/1098 | ||
|
chr4:56371517
|
G | A | 0.2042 | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/15 | c.795C>T | p.Ser265Ser | 967/3581 | 795/3297 | 265/1098 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56338310
|
C | CTTCT | 0.2068 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
a0003a0008a0018 | a0003c0003a0008c0011a0018c0023 | a0003c0003t0002a0008c0011t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(68): Show | 79 | 382 | 4 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | c.*88_*91dupAGAA | 91 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56339622
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(20): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(24): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(261): Show | 295 | 382 | 0.7723 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-831T>C | ||||||
|
chr4:56339668
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(188): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(169): Show | 191 | 382 | 0.5000 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-877A>G | ||||||
|
chr4:56339748
|
C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(143): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0242a0001c0005t0001g0299others(128): Show | 146 | 382 | 0.3822 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-960_2908-958dupTTT | ||||||
|
chr4:56339830
|
A | AAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(168): Show | 190 | 382 | 0.4974 | 2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-1041_2908-1040dupCT | ||||||
|
chr4:56341022
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(205): Show | 231 | 382 | 0.6047 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1813C>T | ||||||
|
chr4:56341389
|
C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(32): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(25): Show | 35 | 382 | 0.0916 | 9 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1437_2907+1445dupAAAAAAAAA | ||||||
|
chr4:56341559
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(138): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0071others(125): Show | 141 | 382 | 0.3691 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1275dupA | ||||||
|
chr4:56342004
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+831G>A | ||||||
|
chr4:56342038
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+797A>G | ||||||
|
chr4:56342110
|
CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | -16 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+709_2907+724delTTTTTTTTTTTTTTTT | ||||||
|
chr4:56342789
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0010a0002c0002others(8): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(10): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(147): Show | 165 | 382 | 0.4319 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+46T>A | ||||||
|
chr4:56343365
|
CATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(252): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(22): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(224): Show | 255 | 382 | 0.6675 | -4 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+193_2775+196delATAT | ||||||
|
chr4:56344940
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(11): Show | a0001c0001t0001g0054a0001c0001t0001g0057a0001c0005t0001g0011others(113): Show | 127 | 382 | 0.3325 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2652+186delA | ||||||
|
chr4:56347692
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(221): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(200): Show | 224 | 382 | 0.5864 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1571C>T | ||||||
|
chr4:56348200
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1063A>C | ||||||
|
chr4:56348241
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1022G>A | ||||||
|
chr4:56348606
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+657G>A | ||||||
|
chr4:56350364
|
G | T | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0042a0018c0023t0002g0043 | 6 | 382 | 0.0157 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1693-306C>A | ||||||
|
chr4:56350766
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+576C>T | ||||||
|
chr4:56350773
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+569T>C | ||||||
|
chr4:56350915
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+427A>G | ||||||
|
chr4:56351174
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+168A>G | ||||||
|
chr4:56351629
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1577-172G>C | ||||||
|
chr4:56352538
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+866G>A | ||||||
|
chr4:56353209
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+195A>G | ||||||
|
chr4:56353357
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+47T>C | ||||||
|
chr4:56355593
|
GTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0006others(4): Show | a0001c0010t0001a0002c0002t0001a0002c0006t0001others(5): Show | a0001c0010t0001g0280a0001c0010t0001g0281a0002c0002t0001g0017others(86): Show | 100 | 382 | 0.2618 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-172_862-171delAA | ||||||
|
chr4:56355792
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(229): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(206): Show | 232 | 382 | 0.6073 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-369T>A | ||||||
|
chr4:56355882
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-459A>T | ||||||
|
chr4:56356260
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-837T>C | ||||||
|
chr4:56356615
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0010t0001a0002c0002t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-1192G>T | ||||||
|
chr4:56357516
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-2093G>A | ||||||
|
chr4:56358353
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-2930T>C | ||||||
|
chr4:56358838
|
T | A | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0042a0018c0023t0002g0043 | 6 | 382 | 0.0157 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3415A>T | ||||||
|
chr4:56358883
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3460T>G | ||||||
|
chr4:56359112
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
a0001a0002a0003others(6): Show | a0001c0005a0001c0010a0002c0002others(7): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(9): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(121): Show | 135 | 382 | 0.3534 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3690dupA | ||||||
|
chr4:56359622
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4199T>C | ||||||
|
chr4:56360284
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4861A>G | ||||||
|
chr4:56361182
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-5759G>A | ||||||
|
chr4:56363044
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-7621A>G | ||||||
|
chr4:56363490
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7961T>C | ||||||
|
chr4:56363791
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7660C>G | ||||||
|
chr4:56363853
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7598A>G | ||||||
|
chr4:56364010
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(6): Show | a0001c0001t0001g0088a0001c0005t0001g0011a0001c0005t0001g0028others(112): Show | 126 | 382 | 0.3298 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7441A>G | ||||||
|
chr4:56364307
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7144T>G | ||||||
|
chr4:56364384
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7067A>G | ||||||
|
chr4:56364427
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7024C>T | ||||||
|
chr4:56364521
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6930G>A | ||||||
|
chr4:56365458
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(290): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(259): Show | 293 | 382 | 0.7670 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5993T>G | ||||||
|
chr4:56365606
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5845G>T | ||||||
|
chr4:56366236
|
C | T | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG02809.hp1 others(5): Show |
a0001a0003a0018 | a0001c0001a0003c0003a0018c0023 | a0001c0001t0001a0003c0003t0002a0018c0023t0002 | a0001c0001t0001g0013a0003c0003t0002g0003a0003c0003t0002g0042others(1): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5215G>A | ||||||
|
chr4:56366541
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4910G>C | ||||||
|
chr4:56367448
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4003A>G | ||||||
|
chr4:56367470
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3981A>G | ||||||
|
chr4:56367471
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3980C>A | ||||||
|
chr4:56367597
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3854C>G | ||||||
|
chr4:56367621
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3830C>A | ||||||
|
chr4:56367651
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3800C>T | ||||||
|
chr4:56367875
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3576G>T | ||||||
|
chr4:56367971
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3480A>G | ||||||
|
chr4:56368150
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3301T>G | ||||||
|
chr4:56369120
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2331A>G | ||||||
|
chr4:56369308
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2143C>G | ||||||
|
chr4:56369957
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(65): Show | 76 | 382 | 0.1990 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+1494T>G | ||||||
|
chr4:56370165
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+1286G>A | ||||||
|
chr4:56370657
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+794T>C | ||||||
|
chr4:56371324
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+127C>T | ||||||
|
chr4:56371811
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-168G>T | ||||||
|
chr4:56371898
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-255T>C | ||||||
|
chr4:56372472
|
A | T | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0042a0018c0023t0002g0043 | 6 | 382 | 0.0157 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-829T>A | ||||||
|
chr4:56373014
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-1371G>A | ||||||
|
chr4:56373825
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2184_669-2183delAA | ||||||
|
chr4:56373828
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2185G>C | ||||||
|
chr4:56373832
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2189A>T | ||||||
|
chr4:56373833
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2191_669-2190insA | ||||||
|
chr4:56373835
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2192A>G | ||||||
|
chr4:56374367
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(116): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(9): Show | a0001c0001t0001g0166a0001c0005t0001g0285a0001c0005t0001g0313others(100): Show | 119 | 382 | 0.3115 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2725dupT | ||||||
|
chr4:56374369
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(190): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(14): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(171): Show | 193 | 382 | 0.5052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2726C>T | ||||||
|
chr4:56375196
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2952A>G | ||||||
|
chr4:56375832
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(111): Show | 125 | 382 | 0.3272 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2316A>C | ||||||
|
chr4:56376019
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0069a0001c0005t0001g0316a0001c0005t0001g0317others(67): Show | 81 | 382 | 0.2120 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2128dupA | ||||||
|
chr4:56376105
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2043G>A | ||||||
|
chr4:56376772
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1376C>T | ||||||
|
chr4:56377070
|
A | AAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1077_668+1078insAT | ||||||
|
chr4:56377074
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1074T>A | ||||||
|
chr4:56377078
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0068a0001c0001t0001g0125a0002c0002t0001g0115others(122): Show | 141 | 382 | 0.3691 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1070T>A | ||||||
|
chr4:56377086
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(221): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0010a0002c0002others(12): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(15): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(199): Show | 224 | 382 | 0.5864 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1061dupT | ||||||
|
chr4:56378653
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0010a0002c0002others(12): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(15): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(200): Show | 226 | 382 | 0.5916 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-189T>C | ||||||
|
chr4:56378893
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0006others(14): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(224): Show | 265 | 382 | 0.6937 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-429A>T | ||||||
|
chr4:56379071
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(205): Show | 231 | 382 | 0.6047 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-607G>A | ||||||
|
chr4:56379853
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(66): Show | 77 | 382 | 0.2016 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-1389C>T | ||||||
|
chr4:56381649
|
T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp2 others(21): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0003a0006c0009others(2): Show | a0002c0002t0001a0003c0003t0002a0006c0009t0004others(2): Show | a0002c0002t0001g0017a0002c0002t0001g0105a0002c0002t0001g0110others(17): Show | 24 | 382 | 0.0628 | 20 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+827_351+828insTGTGTGTGTGTGTGTGTGAG | ||||||
|
chr4:56381696
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(230): Show |
a0001a0002a0003others(12): Show | a0001c0005a0001c0010a0002c0002others(15): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(18): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(207): Show | 233 | 382 | 0.6100 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+781T>C | ||||||
|
chr4:56382776
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-179G>A | ||||||
|
chr4:56382836
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
a0002a0003a0006others(6): Show | a0002c0002a0002c0006a0002c0024others(8): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(155): Show | 178 | 382 | 0.4660 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-239C>G | ||||||
|
chr4:56383109
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-512A>T | ||||||
|
chr4:56383162
|
A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-566dupA | ||||||
|
chr4:56383918
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(257): Show | 291 | 382 | 0.7618 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.230+151_230+152insT | ||||||
|
chr4:56385932
|
T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(109): Show | 123 | 382 | 0.3220 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+1429_-43+1430insG | ||||||
|
chr4:56386712
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+650G>C | ||||||
|
chr4:56386799
|
CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0042a0018c0023t0002g0043 | 6 | 382 | 0.0157 | -6 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+557_-43+562delTTTTTT |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/1 | a0003 | 1098 | 77 | 25 | 24 | 6 | 6 | 15 | subcellular location copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/1 | c0003 | 3297 | 77 | 25 | 24 | 6 | 6 | 15 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/1 | t0002 | 289 | 79 | 25 | 24 | 8 | 6 | 15 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | g0003 | 4 | 3 | 1 | 0 | 0 | 0 | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/1 | a0003c0003 | 77 | 25 | 24 | 6 | 6 | 15 | 3297 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/1 | a0003c0003t0002 | 76 | 24 | 24 | 6 | 6 | 15 | 3585 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | a0003c0003t0002g0003 | 4 | 3 | 1 | 0 | 0 | 0 | chr4 | 56333290 | 56392491 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 56387362 | - | 1 | -0.3984 | -0.3984 | -0.3984 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56384070 | - | 2 | -0.2971 | -0.2970 | -0.2971 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56384341 | - | 2 | 0.3179 | 0.3179 | 0.3179 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56382477 | - | 3 | -0.5597 | -0.5597 | -0.5597 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56382597 | - | 3 | 0.6741 | 0.6741 | 0.6741 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56378148 | - | 4 | -0.6956 | -0.6956 | -0.6956 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56378464 | - | 4 | 0.6963 | 0.6963 | 0.6963 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56371451 | - | 5 | -0.7569 | -0.7569 | -0.7569 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56371643 | - | 5 | 0.7109 | 0.7109 | 0.7109 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56355182 | - | 6 | -0.8969 | -0.8969 | -0.8969 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56355423 | - | 6 | 0.8765 | 0.8765 | 0.8765 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354705 | - | 7 | -0.4791 | -0.4791 | -0.4791 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354811 | - | 7 | 0.6432 | 0.6432 | 0.6432 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354039 | - | 8 | -0.9910 | -0.9910 | -0.9910 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354211 | - | 8 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56353404 | - | 9 | -0.9937 | -0.9937 | -0.9937 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56353596 | - | 9 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56351342 | - | 10 | -0.7643 | -0.7643 | -0.7643 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56351457 | - | 10 | 0.7993 | 0.7993 | 0.7993 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56349263 | - | 11 | -0.6705 | -0.6705 | -0.6705 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56350058 | - | 11 | 0.9031 | 0.9031 | 0.9031 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56345127 | - | 12 | -0.9844 | -0.9844 | -0.9844 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56345290 | - | 12 | 0.9569 | 0.9569 | 0.9569 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56343562 | - | 13 | -0.6761 | -0.6761 | -0.6761 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56343684 | - | 13 | 0.9031 | 0.9031 | 0.9031 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56342835 | - | 14 | -0.6872 | -0.6872 | -0.6872 | 0.0000 | acceptor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56342966 | - | 14 | 0.6901 | 0.6901 | 0.6901 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56338791 | - | 15 | 0.9391 | 0.9391 | 0.9391 | 0.0000 | donor | a0003c0003t0002g0003 | HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
HG01167.hp2 HG02809.hp1 HG02896.hp2 NA20129.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Adipose_Subcutaneous 14.590 -0.238 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.678 | 382 | 458 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
PPAT Adipose_Subcutaneous 5.597 0.131 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.678 | 382 | 458 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Adipose_Visceral_Omentum 10.721 -0.221 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.664 | 324 | 392 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Adrenal_Gland 12.848 -0.377 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.653 | 168 | 205 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Artery_Aorta 7.588 -0.188 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.679 | 252 | 303 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Artery_Tibial 6.199 -0.153 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(294): Show |
0.669 | 381 | 456 | 10 | chr4_56336986_T_C_b38 | - | MODIFIER | chr4 | T | C | TogoVar |
| 56336986:splice 56336986:variant goto | AASDHdownstream_gene_variantc.*1416A>G others(3): Show |
AASDH Brain_Cerebellar_Hemisphere 5.030 -0.247 | 172327267 | a0001a0002a0003a0004a0005others(12): Show | a0001c0001a0001c0005a0001c0010a0002c0002a0002c0006others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005a0001c0010t0001a0002c0002t0001others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0125others(262): Show |