| geneid | 10157 |
|---|---|
| ensemblid | ENSG00000008311.16 |
| hgncid | 17366 |
| symbol | AASS |
| name | aminoadipate-semialdehyde synthase |
| refseq_nuc | NM_005763.4 |
| refseq_prot | NP_005754.2 |
| ensembl_nuc | ENST00000417368.7 |
| ensembl_prot | ENSP00000403768.2 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 122073549 |
| end | 122144249 |
| strand | - |
| ver | v1.2 |
| region | chr7:122073549-122144249 |
| region5000 | chr7:122068549-122149249 |
| regionname0 | AASS_chr7_122073549_122144249 |
| regionname5000 | AASS_chr7_122068549_122149249 |
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:122074599
|
C | T | 0.7266 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*1890G>A | 1890 | |||||
|
chr7:122075517
|
G | A | 0.0964 | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(22): Show | 37 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*972C>T | 972 | |||||
|
chr7:122075911
|
C | T | 0.7240 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*578G>A | 578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:122077054
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(186): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(158): Show | 189 | 384 | 0.4922 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 23/23 | c.2663-447A>G | ||||||
|
chr7:122077228
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 23/23 | c.2662+610A>G | ||||||
|
chr7:122079532
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 21/23 | c.2396+65G>A | ||||||
|
chr7:122079769
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 20/23 | c.2281-57C>T | ||||||
|
chr7:122081147
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(138): Show | 169 | 384 | 0.4401 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 20/23 | c.2280+353G>T | ||||||
|
chr7:122083054
|
G | GAAGAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 5 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | c.2185-1464_2185-1460dupTTCTT | ||||||
|
chr7:122083604
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | c.2185-2009G>T | ||||||
|
chr7:122084769
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | c.2184+1243C>T | ||||||
|
chr7:122085518
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(43): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0029others(5): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(31): Show | 46 | 384 | 0.1198 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | c.2184+494G>A | ||||||
|
chr7:122085907
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(67): Show | 90 | 384 | 0.2344 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | c.2184+105T>C | ||||||
|
chr7:122086541
|
T | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0208a0001c0001t0004g0002a0001c0001t0004g0148others(3): Show | 12 | 384 | 0.0313 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 18/23 | c.2017-362A>T | ||||||
|
chr7:122088014
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 18/23 | c.2017-1835C>T | ||||||
|
chr7:122091341
|
T | C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(22): Show | 37 | 384 | 0.0964 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 18/23 | c.2016+362A>G | ||||||
|
chr7:122092724
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(132): Show | 163 | 384 | 0.4245 | 1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 17/23 | c.1875+118dupT | ||||||
|
chr7:122095521
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | c.1656-2363A>G | ||||||
|
chr7:122095581
|
TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(183): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(153): Show | 186 | 384 | 0.4844 | -1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | c.1656-2424delT | ||||||
|
chr7:122095666
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(43): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0029others(5): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(31): Show | 46 | 384 | 0.1198 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | c.1656-2508A>G | ||||||
|
chr7:122096030
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | c.1655+2420C>T | ||||||
|
chr7:122100250
|
T | C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(22): Show | 37 | 384 | 0.0964 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | c.1406+1121A>G | ||||||
|
chr7:122101169
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | c.1406+202C>G | ||||||
|
chr7:122103409
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(67): Show | 90 | 384 | 0.2344 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-1729G>A | ||||||
|
chr7:122104267
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(138): Show | 169 | 384 | 0.4401 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-2587T>C | ||||||
|
chr7:122104297
|
T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-2618dupT | ||||||
|
chr7:122104614
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-2934G>A | ||||||
|
chr7:122105239
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(138): Show | 169 | 384 | 0.4401 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-3559T>C | ||||||
|
chr7:122105425
|
G | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0029 | a0001c0001t0004g0002a0001c0001t0004g0148a0001c0001t0004g0149others(4): Show | 13 | 384 | 0.0339 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-3745C>T | ||||||
|
chr7:122106149
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1279-4469G>A | ||||||
|
chr7:122107950
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(240): Show | 300 | 384 | 0.7813 | -1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+5167delT | ||||||
|
chr7:122109253
|
C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0014a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 236 | 384 | 0.6146 | 2 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+3863_1278+3864dupTT | ||||||
|
chr7:122109768
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(138): Show | 169 | 384 | 0.4401 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+3350G>A | ||||||
|
chr7:122110843
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+2275A>G | ||||||
|
chr7:122111513
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+1605G>A | ||||||
|
chr7:122111620
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+1498C>T | ||||||
|
chr7:122111819
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+1299C>T | ||||||
|
chr7:122111978
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | c.1278+1140C>T | ||||||
|
chr7:122113462
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0.7266 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 10/23 | c.1166+136G>T | ||||||
|
chr7:122114641
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(138): Show | 169 | 384 | 0.4401 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 9/23 | c.1043+433G>A | ||||||
|
chr7:122115901
|
T | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148a0001c0001t0004g0169 | 2 | 384 | 0.0052 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 8/23 | c.895-679A>G | ||||||
|
chr7:122117076
|
C | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148a0001c0001t0004g0169 | 2 | 384 | 0.0052 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 6/23 | c.688-119G>A | ||||||
|
chr7:122118236
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 6/23 | c.687+71C>G | ||||||
|
chr7:122121254
|
A | G | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(22): Show | 37 | 384 | 0.0964 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4/23 | c.473-2624T>C | ||||||
|
chr7:122125790
|
TTAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | -3 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4/23 | c.472+582_472+584delGTA | ||||||
|
chr7:122125796
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4/23 | c.472+579A>T | ||||||
|
chr7:122125959
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(42): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0029others(5): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(30): Show | 45 | 384 | 0.1172 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4/23 | c.472+416T>C | ||||||
|
chr7:122127099
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 3/23 | c.388-640A>G | ||||||
|
chr7:122129140
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(235): Show | 281 | 384 | 0.7318 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 3/23 | c.387+221A>G | ||||||
|
chr7:122130416
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(235): Show | 281 | 384 | 0.7318 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 2/23 | c.211-879T>C | ||||||
|
chr7:122134772
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(317): Show | 383 | 384 | 0.9974 | 1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-1032dupC | ||||||
|
chr7:122134914
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(86): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(66): Show | 89 | 384 | 0.2318 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-1173G>T | ||||||
|
chr7:122135271
|
T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(63): Show | 86 | 384 | 0.2240 | 3 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-1533_-15-1531dupTTT | ||||||
|
chr7:122135862
|
T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 16 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-2137_-15-2122dupTGAACCTGTATATAAA | ||||||
|
chr7:122137973
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(142): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0047others(122): Show | 145 | 384 | 0.3776 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-15-4232T>C | ||||||
|
chr7:122139431
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-16+4730T>G | ||||||
|
chr7:122139948
|
TCAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(237): Show | 283 | 384 | 0.7370 | -4 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-16+4209_-16+4212delTTTG | ||||||
|
chr7:122140485
|
C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp2 others(5): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0048a0001c0001t0003g0036a0001c0001t0004g0148others(5): Show | 8 | 384 | 0.0208 | 15 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-16+3661_-16+3675dupTTTTTTTTTTTTTTT | ||||||
|
chr7:122140877
|
T | TA | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(38): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0150a0001c0001t0002g0251a0001c0001t0004g0002others(26): Show | 41 | 384 | 0.1068 | 1 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-16+3283dupT | ||||||
|
chr7:122141658
|
CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(128): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(111): Show | 131 | 384 | 0.3412 | -8 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | c.-16+2495_-16+2502delTTTTTTTT |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001 | 926 | 368 | 81 | 74 | 164 | 11 | 36 | subcellular location copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | c0001 | 2781 | 363 | 78 | 74 | 164 | 10 | 35 | copy fasta | chr7 | 122068549 | 122149249 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | t0004 | 3045 | 35 | 9 | 3 | 23 | 0 | 0 | copy fasta | chr7 | 122068549 | 122149249 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | g0148 | 1 | 0 | 1 | 0 | 0 | 0 | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001c0001 | 363 | 78 | 74 | 164 | 10 | 35 | 2781 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | a0001c0001t0004 | 34 | 9 | 3 | 22 | 0 | 0 | 5825 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | a0001c0001t0004g0148 | 1 | 0 | 1 | 0 | 0 | 0 | chr7 | 122068549 | 122149249 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 122144161 | - | 1 | -0.9100 | -0.9100 | -0.9100 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122133517 | - | 2 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122133741 | - | 2 | 0.9862 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122129361 | - | 3 | -0.9863 | -0.9863 | -0.9863 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122129537 | - | 3 | 0.9718 | 0.9718 | 0.9718 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122126375 | - | 4 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122126459 | - | 4 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122118563 | - | 5 | -0.9845 | -0.9845 | -0.9845 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122118630 | - | 5 | 0.9860 | 0.9860 | 0.9860 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122118307 | - | 6 | -0.9811 | -0.9811 | -0.9811 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122118453 | - | 6 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122116879 | - | 7 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122116957 | - | 7 | 0.9975 | 0.9974 | 0.9975 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122116633 | - | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122116760 | - | 8 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122115074 | - | 9 | -0.9333 | -0.9333 | -0.9333 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122115222 | - | 9 | 0.9532 | 0.9532 | 0.9532 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122113598 | - | 10 | -0.9922 | -0.9922 | -0.9922 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122113720 | - | 10 | 0.9806 | 0.9806 | 0.9806 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122113118 | - | 11 | -0.9943 | -0.9943 | -0.9943 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122113229 | - | 11 | 0.9807 | 0.9807 | 0.9807 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101621 | - | 12 | -0.9829 | -0.9829 | -0.9829 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101680 | - | 12 | 0.9936 | 0.9936 | 0.9936 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101371 | - | 13 | -0.9920 | -0.9919 | -0.9920 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101438 | - | 13 | 0.9248 | 0.9248 | 0.9248 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098745 | - | 14 | -0.7129 | -0.7129 | -0.7129 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098866 | - | 14 | 0.8584 | 0.8584 | 0.8584 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098450 | - | 15 | -0.9944 | -0.9944 | -0.9944 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098576 | - | 15 | 0.9838 | 0.9838 | 0.9838 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122093048 | - | 16 | -0.9809 | -0.9809 | -0.9809 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122093158 | - | 16 | 0.9836 | 0.9836 | 0.9836 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122092843 | - | 17 | -0.9819 | -0.9819 | -0.9819 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122092951 | - | 17 | 0.9861 | 0.9861 | 0.9861 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122091703 | - | 18 | -0.9400 | -0.9400 | -0.9400 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122091843 | - | 18 | 0.9329 | 0.9329 | 0.9329 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122086012 | - | 19 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122086179 | - | 19 | 0.9091 | 0.9091 | 0.9091 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122081500 | - | 20 | -0.9329 | -0.9329 | -0.9329 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122081595 | - | 20 | 0.8496 | 0.8496 | 0.8496 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122079597 | - | 21 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122079712 | - | 21 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122078862 | - | 22 | -0.9017 | -0.9017 | -0.9017 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122078950 | - | 22 | 0.7259 | 0.7259 | 0.7259 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122077838 | - | 23 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122078014 | - | 23 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122076607 | - | 24 | 0.9463 | 0.9463 | 0.9463 | 0.0000 | donor | a0001c0001t0004g0148 | HG01071.hp1 | HG01071.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 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 |
|---|
