rs72549401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72549401(A;A) |
Make rs72549401(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 168970131 |
Gene | ABCB11 |
is a | snp |
is | mentioned by |
dbSNP | rs72549401 |
dbSNP (classic) | rs72549401 |
ClinGen | rs72549401 |
ebi | rs72549401 |
HLI | rs72549401 |
Exac | rs72549401 |
Gnomad | rs72549401 |
Varsome | rs72549401 |
LitVar | rs72549401 |
Map | rs72549401 |
PheGenI | rs72549401 |
Biobank | rs72549401 |
1000 genomes | rs72549401 |
hgdp | rs72549401 |
ensembl | rs72549401 |
geneview | rs72549401 |
scholar | rs72549401 |
rs72549401 | |
pharmgkb | rs72549401 |
gwascentral | rs72549401 |
openSNP | rs72549401 |
23andMe | rs72549401 |
SNPshot | rs72549401 |
SNPdbe | rs72549401 |
MSV3d | rs72549401 |
GWAS Ctlg | rs72549401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72549401(A;A) |
Alt | rs72549401(A;A) |
Reference | Rs72549401(G;G) |
Significance | Pathogenic |
Disease | Progressive familial intrahepatic cholestasis 2 |
Variation | info |
Gene | ABCB11 |
CLNDBN | Progressive familial intrahepatic cholestasis 2 |
Reversed | 0 |
HGVS | NC_000002.11:g.169826641G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006967.3, |