| geneid | 26090 |
|---|---|
| ensemblid | ENSG00000100997.20 |
| hgncid | 15868 |
| symbol | ABHD12 |
| name | abhydrolase domain containing 12, lysophospholipase |
| refseq_nuc | NM_001042472.3 |
| refseq_prot | NP_001035937.1 |
| ensembl_nuc | ENST00000339157.10 |
| ensembl_prot | ENSP00000341408.5 |
| mane_status | MANE Select |
| chr | chr20 |
| start | 25300214 |
| end | 25390835 |
| strand | - |
| ver | v1.2 |
| region | chr20:25300214-25390835 |
| region5000 | chr20:25295214-25395835 |
| regionname0 | ABHD12_chr20_25300214_25390835 |
| regionname5000 | ABHD12_chr20_25295214_25395835 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12 | 1/1 | a0001 | 398 | 311 | 89 | 70 | 100 | 12 | 38 | subcellular location copy fasta | chr20 | 25295214 | 25395835 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 25390513 | - | 1 | -0.9796 | -0.9528 | -0.9389 | 0.0407 | acceptor | a0001 | HG02145.hp2 | HG02647.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25339227 | - | 2 | -0.9983 | -0.9982 | -0.9981 | 0.0002 | acceptor | a0001 | HG02559.hp2 NA18522.hp2 |
HG02083.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25339351 | - | 2 | 0.9972 | 0.9971 | 0.9969 | 0.0003 | donor | a0001 | HG03139.hp2 | HG02083.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25323325 | - | 3 | -0.9973 | -0.9970 | -0.9967 | 0.0006 | acceptor | a0001 | HG01169.hp2 HG02572.hp2 |
HG03516.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25323430 | - | 3 | 0.9978 | 0.9976 | 0.9974 | 0.0003 | donor | a0001 | HG00099.hp2 HG00733.hp1 HG03239.hp2 HG03654.hp1 HG04204.hp1 others(1): Show |
NA19043.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25320199 | - | 4 | -0.9929 | -0.9925 | -0.9919 | 0.0010 | acceptor | a0001 | HG00423.hp2 | HG01934.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25320318 | - | 4 | 0.9952 | 0.9939 | 0.9927 | 0.0025 | donor | a0001 | HG03490.hp2 NA18939.hp1 NA18998.hp1 NA19057.hp1 NA19063.hp1 |
HG01169.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25317048 | - | 5 | -0.9968 | -0.9963 | -0.9956 | 0.0012 | acceptor | a0001 | HG02647.hp1 | HG03490.hp2 NA18939.hp1 NA18998.hp1 NA19057.hp1 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25317078 | - | 5 | 0.9884 | 0.9868 | 0.9854 | 0.0030 | donor | a0001 | NA19062.hp1 | HG01109.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 others(1): Show |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25314925 | - | 6 | -0.9367 | -0.9236 | -0.9014 | 0.0353 | acceptor | a0001 | NA19030.hp1 | NA19062.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25314970 | - | 6 | 0.9769 | 0.9720 | 0.9676 | 0.0093 | donor | a0001 | HG03834.hp1 | HG01361.hp1 HG02970.hp2 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25309446 | - | 7 | -0.9806 | -0.9777 | -0.9729 | 0.0077 | acceptor | a0001 | NA19010.hp1 | NA20300.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25309575 | - | 7 | 0.9930 | 0.9925 | 0.9915 | 0.0015 | donor | a0001 | HG02145.hp2 NA19043.hp1 |
NA18946.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308457 | - | 8 | -0.9912 | -0.9902 | -0.9893 | 0.0019 | acceptor | a0001 | NA20129.hp1 | HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308494 | - | 8 | 0.9983 | 0.9982 | 0.9980 | 0.0004 | donor | a0001 | NA18980.hp2 NA19010.hp1 |
HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25307966 | - | 9 | -0.7640 | -0.7480 | -0.2898 | 0.4743 | acceptor | a0001 | homoSapiens_grch38.hp1 | HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308045 | - | 9 | 0.8902 | 0.8811 | 0.5481 | 0.3422 | donor | a0001 | HG02559.hp1 | HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25306833 | - | 10 | -0.9663 | -0.9640 | -0.9500 | 0.0162 | acceptor | a0001 | HG02027.hp2 | HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25306915 | - | 10 | 0.9722 | 0.9691 | 0.9632 | 0.0090 | donor | a0001 | HG02559.hp1 | HG02809.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25303550 | - | 11 | -0.9875 | -0.9866 | -0.9825 | 0.0050 | acceptor | a0001 | HG03471.hp2 | HG04184.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25303628 | - | 11 | 0.9793 | 0.9761 | 0.9681 | 0.0112 | donor | a0001 | HG02809.hp1 | HG03139.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25302219 | - | 12 | -0.9717 | -0.9659 | -0.9396 | 0.0322 | acceptor | a0001 | HG03471.hp2 HG04115.hp1 |
NA19068.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25302346 | - | 12 | 0.9596 | 0.9514 | 0.8962 | 0.0634 | donor | a0001 | HG02129.hp1 | HG02055.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25300884 | - | 13 | 0.4925 | 0.4598 | 0.2441 | 0.2483 | donor | a0001 | HG03471.hp2 | HG03453.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 25390493:splice 25390493:variant goto | c.191+20G>C | 1639348 | Likely_benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | HG00423.hp2 | MODIFIER | chr20 | C | G | TogoVar |
| 25295234:splice 25295234:variant goto | c.*5611T>C | 1221566 | Benign | ABHD12:26090 PYGB:5834 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 5 | 9 | 19 | 304 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(299): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show |
MODIFIER | chr20 | A | G | TogoVar |
| 25303707:splice 25303707:variant goto | c.951-79A>G | 1188931 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 3 | 7 | 17 | 262 | a0001a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 others(258): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25301990:splice 25301990:variant goto | c.1157+229A>C | 1245751 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 3 | 7 | 15 | 231 | a0001a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(226): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(227): Show |
MODIFIER | chr20 | T | G | TogoVar |
| 25302308:splice 25302308:variant goto | c.1068T>Cp.Asp356Asp | 128254 | Benign | ABHD12:26090 | SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:CN169374 |
- | 2 | 4 | 10 | 173 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(168): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(169): Show |
LOW | chr20 | A | G | TogoVar |
| 25303302:splice 25303302:variant goto | c.1029+247_1029+248insC | 1188930 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 2 | 4 | 10 | 173 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(168): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(169): Show |
MODIFIER | chr20 | A | AG | TogoVar |
| 25295254:splice 25295254:variant goto | c.*5591G>T | 1231287 | Benign | ABHD12:26090 PYGB:5834 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 4 | 9 | 169 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(165): Show |
MODIFIER | chr20 | C | A | TogoVar |
| 25300548:splice 25300548:variant goto | c.*297C>G | 337986 | Benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 2 | 4 | 9 | 169 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(165): Show |
MODIFIER | chr20 | G | C | TogoVar |
| 25300697:splice 25300697:variant goto | c.*148C>T | 337987 | Benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 2 | 4 | 9 | 169 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(165): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25301097:splice 25301097:variant goto | c.1158-213A>G | 1225388 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 4 | 9 | 169 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(165): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25301198:splice 25301198:variant goto | c.1158-314C>G | 1276966 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 4 | 9 | 169 | a0001a0004 | a0001c0001a0001c0004a0001c0005a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(165): Show |
MODIFIER | chr20 | G | C | TogoVar |
| 25300762:splice 25300762:variant goto | c.*83G>A | 337988 | Benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 2 | 2 | 4 | 137 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0012a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(132): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(132): Show |
MODIFIER | chr20 | C | T | TogoVar |
| 25320386:splice 25320386:variant goto | c.423-68C>T | 676565 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 2 | 2 | 3 | 94 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(89): Show | HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 others(89): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25390477:splice 25390477:variant goto | c.191+36C>G | 1292497 | Benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 7 | 135 | a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(130): Show | HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 others(131): Show |
MODIFIER | chr20 | G | C | TogoVar |
| 25323653:splice 25323653:variant goto | c.317-223C>T | 1287950 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 3 | 22 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(17): Show | HG00140.hp2 HG00280.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2 others(17): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25390386:splice 25390386:variant goto | c.191+127C>T | 1187370 | Likely_benign | ABHD12:26090 LOC130065584:130065584 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024 | HG01081.hp1 HG04199.hp2 NA20905.hp1 |
MODIFIER | chr20 | G | A | TogoVar |
| 25301972:splice 25301972:variant goto | c.1157+247A>G | 1239691 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 2 | 43 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25295668:splice 25295668:variant goto | c.*5177G>A | 3770769 | Benign | ABHD12:26090 PYGB:5834 |
SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | HG03834.hp1 | MODIFIER | chr20 | C | T | TogoVar |
| 25315022:splice 25315022:variant goto | c.574-52C>T | 1192113 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | HG03834.hp1 | MODIFIER | chr20 | G | A | TogoVar |
| 25314678:splice 25314678:variant goto | c.619+246delT | 1227960 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 3 | 5 | 24 | a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009a0001c0002t0002a0001c0004t0004 | a0001c0001t0001g0041a0001c0001t0001g0093a0001c0001t0001g0096a0001c0001t0004g0266a0001c0001t0004g0276others(19): Show | HG00438.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp1 HG01891.hp1 others(19): Show |
MODIFIER | chr20 | TA | T | TogoVar |
| 25307941:splice 25307941:variant goto | c.867+25T>A | 1191439 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | HG00741.hp2 | MODIFIER | chr20 | A | T | TogoVar |
| 25390337:splice 25390337:variant goto | c.191+176C>G | 1218978 | Likely_benign | ABHD12:26090 LOC130065584:130065584 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 3 | a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0063a0001c0001t0001g0107a0001c0002t0002g0223 | HG01346.hp1 HG03579.hp1 HG06807.hp1 |
MODIFIER | chr20 | G | C | TogoVar |
| 25390476:splice 25390476:variant goto | c.191+36_191+37insGG | 1188607 | Likely_benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 2 | 52 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(47): Show | HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 others(48): Show |
MODIFIER | chr20 | G | GCC | TogoVar |
| 25300982:splice 25300982:variant goto | c.1158-98G>A | 1201561 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224a0001c0001t0004g0225 | HG03098.hp1 NA19240.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25309360:splice 25309360:variant goto | c.749+86C>T | 1190228 | Likely_benign | ABHD12:26090 LOC126863008:126863008 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224a0001c0001t0004g0225 | HG03098.hp1 NA19240.hp1 |
MODIFIER | chr20 | G | A | TogoVar |
| 25390487:splice 25390487:variant goto | c.191+26G>A | 1187484 | Likely_benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224a0001c0001t0004g0225 | HG03098.hp1 NA19240.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25307869:splice 25307869:variant goto | c.867+97G>A | 1263002 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 8 | 16 | 177 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009a0001c0001t0010a0001c0002t0002others(11): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(172): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(173): Show |
MODIFIER | chr20 | C | T | TogoVar |
| 25309876:splice 25309876:variant goto | c.620-301G>T | 1237287 | Benign | ABHD12:26090 LOC126863008:126863008 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 8 | 15 | 169 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(164): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
MODIFIER | chr20 | C | A | TogoVar |
| 25390742:splice 25390742:variant goto | c.-40_-39insGGCGGAGGC | 337999 | Benign | ABHD12:26090 LOC130065586:130065586 |
SO:0001623 5_prime_UTR_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 4 | 8 | 15 | 169 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(164): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
MODIFIER | chr20 | G | GGCCTCCG others(2): Show |
TogoVar |
| 25339592:splice 25339592:variant goto | c.192-241A>T | 1272833 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 7 | 13 | 151 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0005a0002c0006others(2): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267a0001c0001t0004g0291a0001c0001t0010g0290others(146): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(146): Show |
MODIFIER | chr20 | T | A | TogoVar |
| 25309907:splice 25309907:variant goto | c.620-332A>G | 1242476 | Benign | ABHD12:26090 LOC126863008:126863008 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 6 | 12 | 147 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0002c0006a0003c0007others(1): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(142): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(142): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25301892:splice 25301892:variant goto | c.1157+327A>G | 1177787 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 3 | 18 | a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0004t0004 | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280a0001c0001t0004g0281a0001c0001t0004g0282others(13): Show | HG01167.hp2 HG01361.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp1 others(13): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25308056:splice 25308056:variant goto | c.788-11T>G | 1113708 | Conflicting_classifications_of_pathogenicity | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | HG02809.hp1 | MODIFIER | chr20 | A | C | TogoVar |
| 25302005:splice 25302005:variant goto | c.1157+214C>T | 1179513 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 4 | a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293a0001c0005t0004g0296 | HG02145.hp2 HG02559.hp1 HG02809.hp1 NA19043.hp1 |
MODIFIER | chr20 | G | A | TogoVar |
| 25308778:splice 25308778:variant goto | c.750-285dupA | 1205826 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 4 | a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293a0001c0005t0004g0296 | HG02145.hp2 HG02559.hp1 HG02809.hp1 NA19043.hp1 |
MODIFIER | chr20 | C | CT | TogoVar |
| 25302612:splice 25302612:variant goto | c.1030-266T>C | 1192138 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284a0001c0001t0004g0285 | HG02818.hp1 HG02965.hp2 |
MODIFIER | chr20 | A | G | TogoVar |
| 25319880:splice 25319880:variant goto | c.542+319C>T | 1182786 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 5 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284a0001c0001t0004g0285a0001c0001t0004g0287a0001c0001t0004g0288a0001c0001t0004g0289 | HG02145.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 |
MODIFIER | chr20 | G | A | TogoVar |
| 25309241:splice 25309241:variant goto | c.749+205C>T | 1271914 | Benign | ABHD12:26090 LOC126863008:126863008 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 8 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310a0001c0001t0005g0311a0001c0001t0005g0312others(3): Show | HG01109.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 others(4): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25323475:splice 25323475:variant goto | c.317-45T>C | 1253726 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 8 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310a0001c0001t0005g0311a0001c0001t0005g0312others(3): Show | HG01109.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 others(4): Show |
MODIFIER | chr20 | A | G | TogoVar |
| 25390797:splice 25390797:variant goto | c.-94C>T | 338002 | Benign | ABHD12:26090 LOC130065586:130065586 |
SO:0001623 5_prime_UTR_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 1 | 1 | 1 | 8 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310a0001c0001t0005g0311a0001c0001t0005g0312others(3): Show | HG01109.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 others(4): Show |
LOW | chr20 | G | A | TogoVar |
| 25390751:splice 25390751:variant goto | c.-48G>A | 1289125 | Benign | ABHD12:26090 LOC130065586:130065586 |
SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 5 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002a0001c0001t0008g0003a0001c0001t0008g0004a0001c0001t0008g0005a0001c0001t0008g0006 | HG02257.hp1 HG02258.hp1 HG02922.hp2 HG03139.hp1 NA18522.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25300304:splice 25300304:variant goto | c.*541G>A | 897013 | Benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 1 | 1 | 1 | 4 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0010g0295 | HG01515.hp2 HG01975.hp1 HG02922.hp1 HG02970.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25308753:splice 25308753:variant goto | c.750-259G>A | 1207678 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 4 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0010g0295 | HG01515.hp2 HG01975.hp1 HG02922.hp1 HG02970.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25315151:splice 25315151:variant goto | c.574-181A>G | 1261769 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 6 | 11 | 145 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0002c0006a0003c0007others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011others(6): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0010g0295a0001c0002t0002g0140others(140): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(140): Show |
MODIFIER | chr20 | T | C | TogoVar |
| 25317273:splice 25317273:variant goto | c.543-195C>T | 1277456 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 4 | 6 | 11 | 145 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0002c0006a0003c0007others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011others(6): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0010g0295a0001c0002t0002g0140others(140): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(140): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25390923:splice 25390923:variant goto | c.-220G>A | 338004 | Benign | ABHD12:26090 LOC130065586:130065586 |
. | MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 4 | 5 | 10 | 141 | a0001a0002a0003a0005 | a0001c0002a0001c0003a0002c0006a0003c0007a0005c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011a0001c0003t0002others(5): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(136): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(136): Show |
MODIFIER | chr20 | C | T | TogoVar |
| 25390476:splice 25390476:variant goto | c.191+31_191+36delGGGGGC | 1188988 | Benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 3 | 4 | 8 | 112 | a0001a0002a0003 | a0001c0002a0001c0003a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011a0001c0003t0002others(3): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(107): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(107): Show |
MODIFIER | chr20 | GGCCCCC | G | TogoVar |
| 25307996:splice 25307996:variant goto | c.837C>Tp.Arg279Arg | 128255 | Benign | ABHD12:26090 | SO:0001819 synonymous_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:CN169374|MedGen:C3661900 |
- | 3 | 3 | 6 | 84 | a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011a0002c0006t0002others(1): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(79): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(79): Show |
LOW | chr20 | G | A | TogoVar |
| 25390489:splice 25390489:variant goto | c.191+24G>C | 1188989 | Benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 3 | 4 | 6 | 84 | a0001a0002a0003 | a0001c0002a0001c0003a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0003t0002a0002c0006t0002others(1): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(79): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(79): Show |
MODIFIER | chr20 | C | G | TogoVar |
| 25303488:splice 25303488:variant goto | c.1029+62G>T | 1267214 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 3 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152a0001c0002t0002g0163a0001c0002t0002g0192 | HG02257.hp2 HG03491.hp1 HG03654.hp2 |
MODIFIER | chr20 | C | A | TogoVar |
| 25323296:splice 25323296:variant goto | c.422+29C>T | 1292496 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 12 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153a0001c0002t0002g0157a0001c0002t0002g0158a0001c0002t0002g0159a0001c0002t0002g0160others(7): Show | HG00280.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 others(7): Show |
MODIFIER | chr20 | G | A | TogoVar |
| 25302117:splice 25302117:variant goto | c.1157+102G>A | 1178064 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 5 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158a0001c0002t0002g0159a0001c0002t0002g0160a0001c0002t0002g0169a0001c0002t0002g0206 | HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 NA18962.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25303881:splice 25303881:variant goto | c.951-253A>C | 1258498 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 3 | 32 | a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0011 | a0001c0002t0002g0199a0001c0002t0003g0175a0001c0002t0003g0176a0001c0002t0003g0177a0001c0002t0003g0178others(27): Show | HG00099.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01123.hp2 others(27): Show |
MODIFIER | chr20 | T | G | TogoVar |
| 25319936:splice 25319936:variant goto | c.542+263G>A | 1198468 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 3 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201a0001c0002t0002g0202a0001c0002t0002g0203 | HG02486.hp1 HG03041.hp1 NA21309.hp1 |
MODIFIER | chr20 | C | T | TogoVar |
| 25300523:splice 25300523:variant goto | c.*320_*321delAG | 337984 | Likely_benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 1 | 1 | 1 | 30 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175a0001c0002t0003g0176a0001c0002t0003g0177a0001c0002t0003g0178a0001c0002t0003g0179others(25): Show | HG00099.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01123.hp2 others(25): Show |
MODIFIER | chr20 | CCT | C | TogoVar |
| 25338931:splice 25338931:variant goto | c.316+296G>C | 1186599 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0214a0001c0002t0003g0215 | HG02559.hp2 NA18522.hp2 |
MODIFIER | chr20 | C | G | TogoVar |
| 25300391:splice 25300391:variant goto | c.*454G>A | 337980 | Likely_benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 1 | 1 | 1 | 6 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0155a0001c0002t0007g0170a0001c0002t0007g0173a0001c0002t0007g0187a0001c0002t0007g0196others(1): Show | HG00323.hp2 HG01081.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp2 others(1): Show |
MODIFIER | chr20 | C | T | TogoVar |
| 25390489:splice 25390489:variant goto | c.191+24G>T | 1275559 | Benign | ABHD12:26090 LOC130065585:130065585 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 3 | 7 | a0001 | a0001c0002a0001c0003 | a0001c0002t0011a0001c0003t0002a0001c0003t0011 | a0001c0002t0011g0301a0001c0003t0002g0297a0001c0003t0002g0298a0001c0003t0002g0299a0001c0003t0002g0300others(2): Show | HG00741.hp1 HG02486.hp2 HG02818.hp2 HG02976.hp1 HG03130.hp1 others(2): Show |
MODIFIER | chr20 | C | A | TogoVar |
| 25302521:splice 25302521:variant goto | c.1030-175T>A | 1201858 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0247a0001c0003t0002g0265 | HG01884.hp2 HG03453.hp1 |
MODIFIER | chr20 | A | T | TogoVar |
| 25303339:splice 25303339:variant goto | c.1029+211G>C | 1201525 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0247a0001c0003t0002g0265 | HG01884.hp2 HG03453.hp1 |
MODIFIER | chr20 | C | G | TogoVar |
| 25323759:splice 25323759:variant goto | c.317-329C>T | 1191911 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 4 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0249a0001c0003t0002g0270a0001c0003t0002g0275a0001c0003t0002g0283 | HG01109.hp1 HG03041.hp2 HG03225.hp1 NA19043.hp2 |
MODIFIER | chr20 | G | A | TogoVar |
| 25323256:splice 25323256:variant goto | c.422+69G>C | 1210897 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0298a0001c0003t0002g0303 | HG02976.hp1 HG03130.hp1 |
MODIFIER | chr20 | C | G | TogoVar |
| 25308807:splice 25308807:variant goto | c.750-313A>C | 1212540 | Likely_benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0300 | HG00741.hp1 | MODIFIER | chr20 | T | G | TogoVar |
| 25300524:splice 25300524:variant goto | c.*321G>T | 337985 | Benign | ABHD12:26090 | SO:0001624 3_prime_UTR_variant,SO:0001627 intron_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848 |
- | 1 | 1 | 1 | 8 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0250a0001c0003t0006g0251a0001c0003t0006g0268a0001c0003t0006g0269a0001c0003t0006g0271others(3): Show | HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
MODIFIER | chr20 | C | A | TogoVar |
| 25303264:splice 25303264:variant goto | c.1029+284_1029+285delAG | 1229158 | Benign | ABHD12:26090 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 8 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0250a0001c0003t0006g0251a0001c0003t0006g0268a0001c0003t0006g0269a0001c0003t0006g0271others(3): Show | HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
MODIFIER | chr20 | CCT | C | TogoVar |
| 25300866:splice 25300866:variant goto | c.1176G>Ap.Ser392Ser | 337990 | Benign | ABHD12:26090 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MONDO:MONDO:0012984 MedGen:C2675204 OMIM:612674 Orphanet:171848|MedGen:C3661900 |
- | 1 | 1 | 1 | 3 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0277a0001c0004t0004g0278a0001c0004t0004g0279 | HG03491.hp2 HG03492.hp1 HG04115.hp1 |
LOW | chr20 | C | T | TogoVar |
| 25302235:splice 25302235:variant goto | c.1141C>Tp.Leu381Leu | 286962 | Benign/Likely_benign | ABHD12:26090 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900 | - | 1 | 1 | 1 | 2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0293a0001c0005t0004g0296 | HG02145.hp2 NA19043.hp1 |
LOW | chr20 | G | A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:25317451
|
c.543-373T>C |
Liver enzyme levels (alkaline phosphatase) others(3): Show |
a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0005a0002c0006others(2): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267a0001c0001t0004g0291a0001c0001t0010g0290others(146): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(146): Show |
Genome-wide association study identifies loci infl others(50): Show |
Up to 52,350 European ancestry individuals, up to others(40): Show |
ABHD12, GINS1, PYGB | ABHD12 | rs7267979-G | - | MODIFIER | chr20 | A | G |
|
chr20:25298327
|
c.*2518T>C | Serum alkaline phosphatase levels0.03 | a0001a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(190): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(191): Show |
Common and rare sequence variants influencing tumo others(22): Show |
162,774 Icelandic ancestry individuals/ | ABHD12, PYGB | ABHD12 | rs2500430-G | - | MODIFIER | chr20 | A | G |
|
chr20:25352391
|
c.192-13040G>A | Hematocrit0.014312 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(89): Show | HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 others(89): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
562,259 European ancestry individuals/ | NR | ABHD12 | rs1962310-T | - | MODIFIER | chr20 | C | T |
|
chr20:25352391
|
c.192-13040G>A | Hemoglobin concentration0.014889 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(89): Show | HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 others(89): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
563,946 European ancestry individuals/ | NR | ABHD12 | rs1962310-T | - | MODIFIER | chr20 | C | T |
|
chr20:25316334
|
c.573+714C>A | Serum alkaline phosphatase levels17.9 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0002c0006a0003c0007others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011others(6): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0010g0295a0001c0002t0002g0140others(140): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(140): Show |
Genome-wide association study of serum liver enzym others(52): Show |
390,964 European ancestry individuals/105,030 East others(27): Show |
ABHD12 | ABHD12 | rs6083799-T | - | MODIFIER | chr20 | G | T |
|
chr20:25355027
|
c.192-15676C>T |
Protein quantitative trait loci (liver)0 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(1): Show | HG01515.hp2 HG01975.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 others(1): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ABHD12 | rs73347016-A | - | MODIFIER | chr20 | G | A |
|
chr20:25382606
|
c.191+7907G>A | Serum alkaline phosphatase levels0.0304 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153a0001c0002t0002g0156a0001c0002t0002g0157a0001c0002t0002g0158a0001c0002t0002g0159others(7): Show | HG00280.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 others(7): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,535 European ancestry individuals, 6,019 Afric others(64): Show |
NR | ABHD12 | rs6076340-T | - | MODIFIER | chr20 | C | T |
|
chr20:25393587
|
c.-2884C>A | Serum alkaline phosphatase levels0.0329 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(4): Show | HG00140.hp2 HG00280.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2 others(4): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,535 European ancestry individuals, 6,019 Afric others(64): Show |
NR | GINS1 | rs73107469-T | - | MODIFIER | chr20 | G | T |
|
chr20:25393146
|
c.-2443G>T | Body fat percentage0.012 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(164): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
Genetic evidence for different adiposity phenotype others(82): Show |
442,278 European ancestry individuals/ | GINS1 | rs59934506-C | - | MODIFIER | chr20 | C | A | |
|
chr20:25393146
|
c.-2443G>T | Alanine aminotransferase levels0.012 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(164): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
Genetic evidence for different adiposity phenotype others(82): Show |
429,203 European ancestry individuals/ | GINS1 | rs59934506-C | - | MODIFIER | chr20 | C | A | |
|
chr20:25393146
|
c.-2443G>T |
Metabolic biomarkers (multivariate analysis)< others(4): Show |
a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(164): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
Genetic evidence for different adiposity phenotype others(82): Show |
389,354 European ancestry individuals/ | GINS1 | rs59934506-C | - | MODIFIER | chr20 | C | A | |
|
chr20:25382421
|
c.191+8092C>T | Alkaline phosphatase levels0.045 | a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0002c0006t0002a0003c0007t0002 | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(78): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(78): Show |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | ABHD12 | rs6083824-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25333803
|
c.316+5424G>A | Carboxypeptidase M levels0.097 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009a0001c0001t0010a0001c0002t0002others(11): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(172): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(173): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABHD12 | rs6050541-T | - | MODIFIER | chr20 | C | T | |
|
chr20:25349123
|
c.192-9772A>T |
Phosphatidylinositol (18:0_20:4) levels0 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0007a0002c0006t0002a0003c0007t0002 | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(48): Show | HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 others(48): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | ABHD12 | rs6083810-A | - | MODIFIER | chr20 | T | A | |
|
chr20:25311924
|
c.620-2349A>G | Phosphatidylglycerol (36:1) levels0.195 | a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0002c0006t0002a0003c0007t0002 | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(78): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(78): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | ABHD12 | rs4815400-C | - | MODIFIER | chr20 | T | C | |
|
chr20:25369689
|
c.191+20824C>T | Phosphatidylglycerol (36:2) levels0.143 | a0001a0002a0003a0005 | a0001c0002a0001c0003a0002c0006a0003c0007a0005c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011a0001c0003t0002others(5): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(136): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(136): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | ABHD12 | rs4815412-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25301972
|
c.1157+247A>G | FEV10.0213 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
New genetic signals for lung function highlight pa others(89): Show |
321,047 European ancestry individuals/79,005 Europ others(24): Show |
ABHD12 | ABHD12 | rs2236180-T | - | MODIFIER | chr20 | T | C |
|
chr20:25301972
|
c.1157+247A>G | Lung function (FVC)0.0144 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
New genetic signals for lung function highlight pa others(89): Show |
321,047 European ancestry individuals/79,005 Europ others(24): Show |
ABHD12 | ABHD12 | rs2236180-T | - | MODIFIER | chr20 | T | C |
|
chr20:25301972
|
c.1157+247A>G | Lung function (FEV1/FVC)0.016 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
New genetic signals for lung function highlight pa others(89): Show |
321,047 European ancestry individuals/79,005 Europ others(24): Show |
ABHD12 | ABHD12 | rs2236180-T | - | MODIFIER | chr20 | T | C |
|
chr20:25301972
|
c.1157+247A>G | Peak expiratory flow0.0159 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
New genetic signals for lung function highlight pa others(89): Show |
321,047 European ancestry individuals/24,218 Europ others(24): Show |
ABHD12 | ABHD12 | rs2236180-T | - | MODIFIER | chr20 | T | C |
|
chr20:25362622
|
c.192-23271C>T | Alanine aminotransferase levels0.0029 | a0001a0002a0003a0005 | a0001c0002a0001c0003a0002c0006a0003c0007a0005c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0002t0011a0001c0003t0002others(5): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(136): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(136): Show |
Integrative common and rare variant analyses provi others(61): Show |
1,010,710 European ancestry individuals/ | ABHD12 | rs113469203-G | - | MODIFIER | chr20 | G | A | |
|
chr20:25296608
|
c.*4237T>C | Ventromedial occipital thickness (unadjusted for global measures)others(30): Show | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(168): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(169): Show |
Larger cerebral cortex is genetically correlated w others(46): Show |
32,488 European ancestry individuals/5,360 Europea others(35): Show |
PYGB, ABHD12 | rs9927-? | - | MODIFIER | chr20 | A | G | |
|
chr20:25388781
|
c.191+1732A>G | Hemoglobin0.0122 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(90): Show | HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 others(90): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,474 European ancestry individuals, 152,447 Eas others(29): Show |
ABHD12 | rs67676850-C | - | MODIFIER | chr20 | T | C | |
|
chr20:25388781
|
c.191+1732A>G | Hematocrit0.0122 | a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(90): Show | HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 others(90): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,475 European ancestry individuals, 153,015 Eas others(29): Show |
ABHD12 | rs67676850-C | - | MODIFIER | chr20 | T | C | |
|
chr20:25295472
|
c.*5373C>T | Uric acid levels | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(38): Show | HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ABHD12, PYGB | rs2424705-? | - | MODIFIER | chr20 | G | A | |
|
chr20:25313405
|
c.619+1520T>C | Hematocrit0.01924237 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0045a0001c0001t0001g0060a0001c0001t0001g0078 | HG00099.hp1 HG01123.hp1 HG01358.hp2 HG02738.hp2 NA20805.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABHD12 | ABHD12 | rs541907913-G | - | MODIFIER | chr20 | A | G |
|
chr20:25313405
|
c.619+1520T>C | Hemoglobin0.020288786 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0045a0001c0001t0001g0060a0001c0001t0001g0078 | HG00099.hp1 HG01123.hp1 HG01358.hp2 HG02738.hp2 NA20805.hp1 |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABHD12 | ABHD12 | rs541907913-G | - | MODIFIER | chr20 | A | G |
|
chr20:25317451
|
c.543-373T>C | CPM/LAMP2 protein level ratio0.0904735 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0005a0002c0006others(2): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267a0001c0001t0004g0291a0001c0001t0010g0290others(146): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(146): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | ABHD12 | rs7267979-? | - | MODIFIER | chr20 | A | G | |
|
chr20:25317451
|
c.543-373T>C | CD99L2/CPM protein level ratio0.099517 | a0001a0002a0003a0005 | a0001c0001a0001c0002a0001c0003a0001c0005a0002c0006others(2): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267a0001c0001t0004g0291a0001c0001t0010g0290others(146): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(146): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | ABHD12 | rs7267979-? | - | MODIFIER | chr20 | A | G | |
|
chr20:25297964
|
c.*2881C>T |
wg rh intensity-contrast rostralmiddlefrontal others(10): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(157): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(158): Show |
An expanded set of genome-wide association studies others(43): Show |
21,282 British ancestry individuals/10,686 British others(21): Show |
ABHD12, PYGB | rs7020-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25297964
|
c.*2881C>T | wg rh intensity-contrast superiortemporalothers(6): Show | a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(157): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(158): Show |
An expanded set of genome-wide association studies others(43): Show |
21,282 British ancestry individuals/10,686 British others(21): Show |
ABHD12, PYGB | rs7020-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25297964
|
c.*2881C>T | wg rh intensity-contrast fusiform0.063 | a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(157): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(158): Show |
An expanded set of genome-wide association studies others(43): Show |
21,282 British ancestry individuals/10,686 British others(21): Show |
ABHD12, PYGB | rs7020-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25297964
|
c.*2881C>T | wg rh intensity-contrast parstriangularisothers(6): Show | a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(157): Show | HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 others(158): Show |
An expanded set of genome-wide association studies others(43): Show |
21,282 British ancestry individuals/10,686 British others(21): Show |
ABHD12, PYGB | rs7020-A | - | MODIFIER | chr20 | G | A | |
|
chr20:25394038
|
c.-3335T>C |
Alkaline phosphatase (UKB data field 30610)< others(15): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007a0001c0003t0002a0002c0006t0002others(1): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142a0001c0002t0002g0143a0001c0002t0002g0144others(79): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(79): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | GINS1 | rs869358-G | - | MODIFIER | chr20 | A | G |
