| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:25307996
|
G | A | 0.2658 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(81): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(81): Show | 84 | 316 | 0 | ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 9/13 | c.837C>T | p.Arg279Arg | 969/1960 | 837/1197 | 279/398 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr20:25390742
|
G | GGCCTCCG others(2): Show |
0.5348 | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(166): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(12): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266others(166): Show | 169 | 316 | 9 | ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/13 | c.-40_-39insGGCGGAGGC | 40 |
| 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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12 | 0/0 | c0002 | 1197 | 81 | 18 | 34 | 2 | 7 | 20 | copy fasta | chr20 | 25295214 | 25395835 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12 | 0/0 | t0002 | 773 | 95 | 31 | 25 | 24 | 5 | 10 | copy fasta | chr20 | 25295214 | 25395835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12 | 0/0 | a0001c0002 | 81 | 18 | 34 | 2 | 7 | 20 | 1197 | copy fasta | chr20 | 25295214 | 25395835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12 | 0/0 | a0001c0002t0002 | 44 | 9 | 18 | 2 | 5 | 10 | 1969 | 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 | -0.9476 | -0.9431 | -0.9401 | 0.0075 | acceptor | a0001c0002t0002 | HG03704.hp2 | HG02148.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25339227 | - | 2 | -0.9982 | -0.9981 | -0.9982 | 0.0001 | acceptor | a0001c0002t0002 | HG03927.hp2 | HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00733.hp2 HG00735.hp1 others(30): Show |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25339351 | - | 2 | 0.9971 | 0.9971 | 0.9971 | 0.0001 | donor | a0001c0002t0002 | HG02083.hp1 HG02738.hp1 NA21309.hp1 |
HG03704.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25323325 | - | 3 | -0.9973 | -0.9969 | -0.9967 | 0.0006 | acceptor | a0001c0002t0002 | HG01169.hp2 | HG03516.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25323430 | - | 3 | 0.9977 | 0.9976 | 0.9975 | 0.0003 | donor | a0001c0002t0002 | HG01361.hp2 HG01993.hp1 |
HG01261.hp1 HG01358.hp1 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25320199 | - | 4 | -0.9924 | -0.9922 | -0.9919 | 0.0005 | acceptor | a0001c0002t0002 | HG01358.hp1 | HG01515.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25320318 | - | 4 | 0.9941 | 0.9939 | 0.9927 | 0.0014 | donor | a0001c0002t0002 | HG01257.hp2 | HG01169.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25317048 | - | 5 | -0.9963 | -0.9960 | -0.9960 | 0.0004 | acceptor | a0001c0002t0002 | HG03704.hp2 | NA18962.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25317078 | - | 5 | 0.9879 | 0.9871 | 0.9866 | 0.0013 | donor | a0001c0002t0002 | HG03704.hp2 | NA18962.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25314925 | - | 6 | -0.9263 | -0.9255 | -0.9177 | 0.0086 | acceptor | a0001c0002t0002 | HG02886.hp1 HG03516.hp1 |
HG02896.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25314970 | - | 6 | 0.9739 | 0.9721 | 0.9685 | 0.0054 | donor | a0001c0002t0002 | NA21309.hp1 | HG02896.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25309446 | - | 7 | -0.9769 | -0.9761 | -0.9761 | 0.0008 | acceptor | a0001c0002t0002 | HG01261.hp1 | HG03239.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25309575 | - | 7 | 0.9922 | 0.9919 | 0.9918 | 0.0004 | donor | a0001c0002t0002 | HG01261.hp1 | HG03927.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308457 | - | 8 | -0.9903 | -0.9903 | -0.9899 | 0.0005 | acceptor | a0001c0002t0002 | HG03239.hp1 | HG01261.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308494 | - | 8 | 0.9982 | 0.9982 | 0.9982 | 0.0000 | donor | a0001c0002t0002 | HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00733.hp2 HG00735.hp1 others(38): Show |
HG01261.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25307966 | - | 9 | -0.6676 | -0.6664 | -0.6658 | 0.0018 | acceptor | a0001c0002t0002 | HG04228.hp1 | HG01261.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25308045 | - | 9 | 0.8134 | 0.8124 | 0.8096 | 0.0038 | donor | a0001c0002t0002 | HG03239.hp1 | HG02486.hp1 HG03041.hp1 NA21309.hp1 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25306833 | - | 10 | -0.9618 | -0.9613 | -0.9587 | 0.0031 | acceptor | a0001c0002t0002 | HG04228.hp1 | HG02486.hp1 HG03041.hp1 NA21309.hp1 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25306915 | - | 10 | 0.9705 | 0.9701 | 0.9689 | 0.0016 | donor | a0001c0002t0002 | HG04184.hp2 | HG03239.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25303550 | - | 11 | -0.9856 | -0.9847 | -0.9825 | 0.0031 | acceptor | a0001c0002t0002 | HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG02896.hp2 others(1): Show |
HG04184.hp2 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25303628 | - | 11 | 0.9775 | 0.9766 | 0.9728 | 0.0048 | donor | a0001c0002t0002 | HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG02896.hp2 others(1): Show |
HG02083.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25302219 | - | 12 | -0.9490 | -0.9476 | -0.9440 | 0.0050 | acceptor | a0001c0002t0002 | HG01169.hp2 | HG02257.hp2 HG03491.hp1 HG03654.hp2 |
ABHD12 | chr20 | 25295214 | 25395835 |
| 25302346 | - | 12 | 0.9127 | 0.9099 | 0.9072 | 0.0055 | donor | a0001c0002t0002 | HG04184.hp2 | HG02083.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 25300884 | - | 13 | 0.2647 | 0.2637 | 0.2536 | 0.0111 | donor | a0001c0002t0002 | HG04228.hp1 | HG02083.hp1 | ABHD12 | chr20 | 25295214 | 25395835 |
| 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 |
|
chr20:25316334
|
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 |
|
chr20:25382606
|
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 |
|
chr20:25393146
|
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 | |
|
chr20:25362622
|
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 | |
|
chr20:25317451
|
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 | |
|
chr20:25394038
|
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 |