rs34719006
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34719006(A;A) |
Make rs34719006(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 57706561 |
Gene | ATP8B1 |
is a | snp |
is | mentioned by |
dbSNP | rs34719006 |
dbSNP (classic) | rs34719006 |
ClinGen | rs34719006 |
ebi | rs34719006 |
HLI | rs34719006 |
Exac | rs34719006 |
Gnomad | rs34719006 |
Varsome | rs34719006 |
LitVar | rs34719006 |
Map | rs34719006 |
PheGenI | rs34719006 |
Biobank | rs34719006 |
1000 genomes | rs34719006 |
hgdp | rs34719006 |
ensembl | rs34719006 |
geneview | rs34719006 |
scholar | rs34719006 |
rs34719006 | |
pharmgkb | rs34719006 |
gwascentral | rs34719006 |
openSNP | rs34719006 |
23andMe | rs34719006 |
SNPshot | rs34719006 |
SNPdbe | rs34719006 |
MSV3d | rs34719006 |
GWAS Ctlg | rs34719006 |
Merged from | Rs121909102 |
GMAF | 0.003673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34719006(A;A) rs34719006(T;T) |
Alt | rs34719006(A;A) rs34719006(T;T) |
Reference | Rs34719006(G;G) |
Significance | Pathogenic |
Disease | Cholestasis of pregnancy not specified |
Variation | info |
Gene | ATP8B1 |
CLNDBN | Cholestasis of pregnancy not specified |
Reversed | 1 |
HGVS | NC_000018.9:g.55373793C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007694.4, RCV000177233.1, |