| geneid | 57406 |
|---|---|
| ensemblid | ENSG00000163686.15 |
| hgncid | 21398 |
| symbol | ABHD6 |
| name | abhydrolase domain containing 6, acylglycerol lipase |
| refseq_nuc | NM_001320126.2 |
| refseq_prot | NP_001307055.1 |
| ensembl_nuc | ENST00000478253.6 |
| ensembl_prot | ENSP00000420315.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 58237792 |
| end | 58294734 |
| strand | + |
| ver | v1.2 |
| region | chr3:58237792-58294734 |
| region5000 | chr3:58232792-58299734 |
| regionname0 | ABHD6_chr3_58237792_58294734 |
| regionname5000 | ABHD6_chr3_58232792_58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58237816
|
G | C | 0.8940 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/10 | c.-191G>C | 18771 | |||||
|
chr3:58294044
|
G | C | 0.8874 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*279G>C | 279 | |||||
|
chr3:58294334
|
T | C | 0.8841 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*569T>C | 569 | |||||
|
chr3:58294362
|
G | A | 0.5464 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(156): Show | 165 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*597G>A | 597 | |||||
|
chr3:58294414
|
G | GA | 0.0199 | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239a0001c0001t0008g0240a0001c0001t0008g0249others(3): Show | 6 | 302 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*651dupA | 652 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001 | 337 | 298 | 94 | 67 | 87 | 12 | 36 | subcellular location copy fasta | chr3 | 58232792 | 58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | c0001 | 1014 | 298 | 94 | 67 | 87 | 12 | 36 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | t0008 | 1186 | 6 | 6 | 0 | 0 | 0 | 0 | copy fasta | chr3 | 58232792 | 58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001c0001 | 298 | 94 | 67 | 87 | 12 | 36 | 1014 | copy fasta | chr3 | 58232792 | 58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | a0001c0001t0008 | 6 | 6 | 0 | 0 | 0 | 0 | 2199 | copy fasta | chr3 | 58232792 | 58299734 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 58237916 | + | 1 | -0.8904 | -0.8901 | -0.8663 | 0.0242 | acceptor | a0001c0001t0008 | HG02559.hp2 HG02572.hp2 |
HG02896.hp2 HG02897.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58249878 | + | 2 | 0.4769 | 0.4690 | 0.4632 | 0.0136 | donor | a0001c0001t0008 | HG02896.hp2 | HG02897.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58249942 | + | 2 | -0.6123 | -0.6083 | -0.6025 | 0.0098 | acceptor | a0001c0001t0008 | HG03453.hp2 NA18906.hp1 |
HG02896.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256562 | + | 3 | 0.9682 | 0.9669 | 0.9514 | 0.0168 | donor | a0001c0001t0008 | HG02572.hp2 HG02896.hp2 HG02897.hp2 |
HG03453.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256705 | + | 3 | -0.9798 | -0.9775 | -0.9720 | 0.0078 | acceptor | a0001c0001t0008 | HG02559.hp2 | HG03453.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58267189 | + | 4 | 0.9843 | 0.9837 | 0.9835 | 0.0008 | donor | a0001c0001t0008 | HG03453.hp2 | HG02559.hp2 HG02572.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58267345 | + | 4 | -0.9738 | -0.9726 | -0.9725 | 0.0012 | acceptor | a0001c0001t0008 | NA18906.hp1 | HG02559.hp2 HG02572.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58269321 | + | 5 | 0.9934 | 0.9934 | 0.9931 | 0.0003 | donor | a0001c0001t0008 | HG02559.hp2 HG02896.hp2 HG02897.hp2 |
HG03453.hp2 NA18906.hp1 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58269434 | + | 5 | -0.9971 | -0.9971 | -0.9970 | 0.0001 | acceptor | a0001c0001t0008 | HG03453.hp2 NA18906.hp1 |
HG02572.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58270932 | + | 6 | 0.9959 | 0.9958 | 0.9956 | 0.0003 | donor | a0001c0001t0008 | HG03453.hp2 NA18906.hp1 |
HG02572.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58271064 | + | 6 | -0.9906 | -0.9900 | -0.9889 | 0.0017 | acceptor | a0001c0001t0008 | HG02572.hp2 | HG03453.hp2 NA18906.hp1 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58274658 | + | 7 | 0.9875 | 0.9850 | 0.9847 | 0.0028 | donor | a0001c0001t0008 | HG03453.hp2 | HG02559.hp2 HG02896.hp2 HG02897.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58274815 | + | 7 | -0.9913 | -0.9887 | -0.9885 | 0.0028 | acceptor | a0001c0001t0008 | HG03453.hp2 | HG02572.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285085 | + | 8 | 0.9911 | 0.9911 | 0.9911 | 0.0000 | donor | a0001c0001t0008 | HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 |
HG03453.hp2 NA18906.hp1 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58285139 | + | 8 | -0.9889 | -0.9889 | -0.9884 | 0.0004 | acceptor | a0001c0001t0008 | HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 |
HG03453.hp2 NA18906.hp1 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58285353 | + | 9 | 0.9600 | 0.9580 | 0.9580 | 0.0019 | donor | a0001c0001t0008 | HG03453.hp2 NA18906.hp1 |
HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58285453 | + | 9 | -0.9970 | -0.9969 | -0.9969 | 0.0001 | acceptor | a0001c0001t0008 | HG03453.hp2 NA18906.hp1 |
HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 58293589 | + | 10 | 0.8325 | 0.8325 | 0.8316 | 0.0010 | donor | a0001c0001t0008 | HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 |
HG03453.hp2 NA18906.hp1 |
ABHD6 | chr3 | 58232792 | 58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 58274820:splice 58274820:variant goto | c.681+5C>T | 708984 | Benign | ABHD6:57406 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0249a0001c0001t0008g0254 | HG03453.hp2 NA18906.hp1 |
LOW | chr3 | C | T | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58278167
|
c.681+3352A>G | Hemoglobin levels0.017 | a0001a0002a0003a0004 | a0001c0001a0002c0002a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(256): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 others(263): Show |
Predicted loss and gain of function mutations in A others(39): Show |
684,122 European ancestry individuals/ | ABHD6, PXK, RPP14 | ABHD6 | rs7431952-A | + | MODIFIER | chr3 | A | G |
|
chr3:58283066
|
c.682-2019A>G | PCSK9 levels0.0211098 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(164): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00733.hp2 others(170): Show |
Meta-GWAS of PCSK9 levels detects two novel loci a others(18): Show |
12,721 European ancestry individuals/ | ABHD6 | rs1554123-G | + | MODIFIER | chr3 | A | G | |
|
chr3:58283066
|
c.682-2019A>G | PCSK9 levels0.0223934 | a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(164): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00733.hp2 others(170): Show |
Meta-GWAS of PCSK9 levels detects two novel loci a others(18): Show |
10,186 European ancestry statin-free individuals/3 others(43): Show |
ABHD6 | rs1554123-G | + | MODIFIER | chr3 | A | G | |
|
chr3:58296849
|
c.*3084T>C | Platelet count0.03046284 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(125): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(126): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
166,066 European ancestry individuals/ | ABHD6 | ABHD6 - RPP14 | rs6445967-C | + | MODIFIER | chr3 | T | C |
|
chr3:58297769
|
c.*4004C>A | Height | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ABHD6 - RPP14 | rs59760856-? | + | MODIFIER | chr3 | C | A | |
|
chr3:58246932
|
c.-90-2946G>A | Trauma exposure1.077 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154a0001c0001t0001g0235a0001c0001t0001g0237others(118): Show | HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 others(119): Show |
Genome-wide gene-environment analyses of major dep others(75): Show |
35,269 European ancestry cases, 63,451 European an others(16): Show |
NR | ABHD6 | rs6445961-A | + | MODIFIER | chr3 | G | A |
|
chr3:58297769
|
c.*4004C>A | Educational attainment0.0810722 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ABHD6 - RPP14 | rs59760856-A | + | MODIFIER | chr3 | C | A | |
|
chr3:58294963
|
c.*1198A>G | Serum uric acid levels0.0108 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,836 European ancestry individuals, 129,405 Eas others(29): Show |
ABHD6 | rs9857570-G | + | MODIFIER | chr3 | A | G |