| geneid | 145447 |
|---|---|
| ensemblid | ENSG00000131969.15 |
| hgncid | 19837 |
| symbol | ABHD12B |
| name | abhydrolase domain containing 12B |
| refseq_nuc | NM_001206673.2 |
| refseq_prot | NP_001193602.1 |
| ensembl_nuc | ENST00000337334.7 |
| ensembl_prot | ENSP00000336693.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 50872053 |
| end | 50904970 |
| strand | + |
| ver | v1.2 |
| region | chr14:50872053-50904970 |
| region5000 | chr14:50867053-50909970 |
| regionname0 | ABHD12B_chr14_50872053_50904970 |
| regionname5000 | ABHD12B_chr14_50867053_50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50872157
|
A | C | 0.9282 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(326): Show | 349 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/13 | c.-18A>C | 18 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50872379
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02622.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0013others(3): Show | a0001c0001t0001g0025a0001c0005t0004g0026a0001c0006t0013g0028others(4): Show | 7 | 376 | 0.0186 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+101G>A | ||||||
|
chr14:50873222
|
CT | C | intron_variant | MODIFIER | HG01169.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0013others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0005t0004g0026others(6): Show | 9 | 376 | 0.0239 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+954delT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50873370
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(321): Show | 344 | 376 | 0.9149 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+1092T>C | ||||||
|
chr14:50873775
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0013a0002c0002t0005others(2): Show | a0001c0001t0001g0025a0001c0006t0013g0028a0002c0002t0005g0022others(3): Show | 6 | 376 | 0.0160 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+1497G>A | ||||||
|
chr14:50874609
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(335): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2331T>A | ||||||
|
chr14:50875135
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(350): Show | 374 | 376 | 0.9947 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2817C>G | ||||||
|
chr14:50875513
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 317 | 376 | 0.8431 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2439C>T | ||||||
|
chr14:50877047
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(28): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(312): Show | 334 | 376 | 0.8883 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-905G>A | ||||||
|
chr14:50877420
|
C | G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-532C>G | ||||||
|
chr14:50877866
|
C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0032others(122): Show | 133 | 376 | 0.3537 | 2 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-78_105-77dupAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50879635
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+788A>C | ||||||
|
chr14:50879659
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-793T>G | ||||||
|
chr14:50879841
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-611G>A | ||||||
|
chr14:50879992
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-460T>A | ||||||
|
chr14:50880108
|
A | G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-344A>G | ||||||
|
chr14:50880389
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(345): Show | 369 | 376 | 0.9814 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-63G>A | ||||||
|
chr14:50881155
|
G | A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-441G>A | ||||||
|
chr14:50881187
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-409G>A | ||||||
|
chr14:50881494
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0013others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0006t0001g0059others(39): Show | 44 | 376 | 0.1170 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-102C>T | ||||||
|
chr14:50882054
|
G | C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+428G>C | ||||||
|
chr14:50882373
|
C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 18 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+751_486+768dupTTTTTTTTTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50882446
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+820G>A | ||||||
|
chr14:50882571
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+945A>G | ||||||
|
chr14:50882582
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+956G>A | ||||||
|
chr14:50882601
|
C | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+975C>T | ||||||
|
chr14:50882616
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+990G>A | ||||||
|
chr14:50882728
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(314): Show | 336 | 376 | 0.8936 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1102G>A | ||||||
|
chr14:50882876
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(316): Show | 338 | 376 | 0.8989 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1250T>C | ||||||
|
chr14:50882973
|
C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0005t0004g0347others(40): Show | 45 | 376 | 0.1197 | 3 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1361_486+1363dupAAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50883038
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(320): Show | 342 | 376 | 0.9096 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1412T>C | ||||||
|
chr14:50883364
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(337): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 340 | 376 | 0.9043 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+1738T>C | ||||||
|
chr14:50883951
|
C | CTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(334): Show | 358 | 376 | 0.9521 | 2 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1661_487-1660dupAT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50883957
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1657T>C | ||||||
|
chr14:50884032
|
GTCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(299): Show | 321 | 376 | 0.8537 | -3 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1577_487-1575delCAT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50884228
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(334): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1386A>G | ||||||
|
chr14:50884303
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(335): Show | 359 | 376 | 0.9548 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1311T>C | ||||||
|
chr14:50884333
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(328): Show | 352 | 376 | 0.9362 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1281C>T | ||||||
|
chr14:50884471
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(334): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1143C>G | ||||||
|
chr14:50884558
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | 337 | 376 | 0.8963 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1056A>G | ||||||
|
chr14:50884575
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(334): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1039C>T | ||||||
|
chr14:50884684
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-930T>C | ||||||
|
chr14:50884702
|
CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(277): Show | 299 | 376 | 0.7952 | -8 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-887_487-880delTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50884713
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(277): Show | 299 | 376 | 0.7952 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-901T>C | ||||||
|
chr14:50884716
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(282): Show | 304 | 376 | 0.8085 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-898T>C | ||||||
|
chr14:50884740
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-874A>G | ||||||
|
chr14:50887211
|
C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0030others(43): Show | 47 | 376 | 0.1250 | 10 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+536_700+545dupAAAAAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50887277
|
A | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+593A>T | ||||||
|
chr14:50887603
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+919C>T | ||||||
|
chr14:50888452
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-372G>T | ||||||
|
chr14:50889503
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+600C>T | ||||||
|
chr14:50889586
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+683T>C | ||||||
|
chr14:50891336
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2433G>A | ||||||
|
chr14:50891469
|
T | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0102a0001c0001t0001g0119others(81): Show | 90 | 376 | 0.2394 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2566T>A | ||||||
|
chr14:50892076
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(196): Show | 210 | 376 | 0.5585 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3173C>T | ||||||
|
chr14:50892113
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 366 | 376 | 0.9734 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3210A>C | ||||||
|
chr14:50896711
|
C | T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 376 | 0.0027 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-5118C>T | ||||||
|
chr14:50897112
|
A | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031others(100): Show | 108 | 376 | 0.2872 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4717A>G | ||||||
|
chr14:50899901
|
A | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0182a0002c0002t0002g0001others(122): Show | 133 | 376 | 0.3537 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-1928A>G |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/1 | a0001 | 362 | 187 | 40 | 37 | 77 | 9 | 22 | subcellular location copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/1 | c0001 | 1089 | 146 | 26 | 29 | 61 | 9 | 19 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/1 | t0001 | 727 | 195 | 45 | 41 | 72 | 10 | 26 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | g0025 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/1 | a0001c0001 | 146 | 26 | 29 | 61 | 9 | 19 | 1089 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/1 | a0001c0001t0001 | 134 | 22 | 27 | 58 | 9 | 17 | 1815 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0001c0001t0001g0025 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50872278 | + | 1 | -0.9221 | -0.9221 | -0.9221 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.3028 | 0.3028 | 0.3028 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1527 | -0.1527 | -0.1527 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.6574 | 0.6574 | 0.6574 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.7843 | -0.7843 | -0.7843 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9526 | 0.9526 | 0.9526 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9753 | -0.9753 | -0.9753 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9392 | 0.9392 | 0.9392 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9616 | -0.9616 | -0.9616 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9198 | 0.9198 | 0.9198 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9020 | -0.9020 | -0.9020 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9286 | -0.9285 | -0.9286 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9312 | 0.9312 | 0.9312 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9576 | -0.9576 | -0.9576 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9942 | 0.9942 | 0.9942 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9647 | 0.9647 | 0.9647 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9678 | -0.9677 | -0.9678 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9347 | 0.9347 | 0.9347 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9039 | -0.9039 | -0.9039 | 0.0000 | acceptor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.5782 | 0.5782 | 0.5782 | 0.0000 | donor | a0001c0001t0001g0025 | HG02258.hp2 | HG02258.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50909079:splice 50909079:variant goto | c.*4713T>G | 1291026 | Benign | PYGL:5836 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 7 | 13 | 30 | 205 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0011a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0005t0004a0001c0005t0007others(25): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0038others(200): Show | HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(213): Show |
MODIFIER | chr14 | T | G | TogoVar |
| 50905615:splice 50905615:variant goto | c.*1249A>G | 1229223 | Benign | PYGL:5836 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 5 | 8 | 13 | 152 | a0001a0002a0005a0009a0010 | a0001c0001a0001c0006a0001c0013a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001a0001c0013t0003a0002c0002t0002others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0038others(147): Show | HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 others(153): Show |
MODIFIER | chr14 | A | G | TogoVar |
| 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 |
|---|