| geneid | 145447 |
|---|---|
| ensemblid | ENSG00000131969.15 |
| hgncid | 19837 |
| symbol | ABHD12B |
| name | abhydrolase domain containing 12B |
| refseq_nuc | NM_001206673.2 |
| refseq_prot | NP_001193602.1 |
| ensembl_nuc | ENST00000337334.7 |
| ensembl_prot | ENSP00000336693.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 50872053 |
| end | 50904970 |
| strand | + |
| ver | v1.2 |
| region | chr14:50872053-50904970 |
| region5000 | chr14:50867053-50909970 |
| regionname0 | ABHD12B_chr14_50872053_50904970 |
| regionname5000 | ABHD12B_chr14_50867053_50909970 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50885627
|
G | A | 0.0426 | missense_variant | MODERATE | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(13): Show |
a0005a0006a0008 | a0005c0008a0006c0010a0008c0015 | a0005c0008t0002a0006c0010t0001a0008c0015t0001 | a0005c0008t0002g0010a0005c0008t0002g0149a0005c0008t0002g0150others(11): Show | 16 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 6/13 | c.500G>A | p.Gly167Asp | 622/1815 | 500/1089 | 167/362 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0006 | 362 | 2 | 0 | 2 | 0 | 0 | 0 | subcellular location copy fasta | chr14 | 50867053 | 50909970 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50872278 | + | 1 | -0.9420 | -0.9420 | -0.9420 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.2948 | 0.2948 | 0.2948 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1411 | -0.1411 | -0.1411 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.6219 | 0.6219 | 0.6219 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.7870 | -0.7870 | -0.7870 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9435 | 0.9435 | 0.9435 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9611 | -0.9611 | -0.9611 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9247 | 0.9247 | 0.9247 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9433 | -0.9433 | -0.9433 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9321 | 0.9321 | 0.9321 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9192 | -0.9192 | -0.9192 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9889 | 0.9889 | 0.9889 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9248 | -0.9248 | -0.9248 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9318 | 0.9318 | 0.9318 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9625 | -0.9625 | -0.9625 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9940 | 0.9940 | 0.9940 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9647 | 0.9647 | 0.9647 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9682 | -0.9682 | -0.9682 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9349 | 0.9349 | 0.9349 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9046 | -0.9046 | -0.9046 | 0.0000 | acceptor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.5758 | 0.5758 | 0.5758 | 0.0000 | donor | a0006 | HG01167.hp2 HG01169.hp2 |
HG01167.hp2 HG01169.hp2 |
ABHD12B | chr14 | 50867053 | 50909970 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50885627
|
c.500G>Ap.Gly167Asp |
Gut microbial network clusters (Pink (at 1 year) x Any household furry Pets (3 Months) interaction< others(63): Show |
a0005a0006a0008 | a0005c0008a0006c0010a0008c0015 | a0005c0008t0002a0006c0010t0001a0008c0015t0001 | a0005c0008t0002g0010a0005c0008t0002g0149a0005c0008t0002g0150a0005c0008t0002g0151a0005c0008t0002g0152others(9): Show | HG00280.hp2 HG00408.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp2 others(11): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(238): Show |
ABHD12B, PYGL | rs35375734-A | + | MODERATE | chr14 | G | A |