rs72549398
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72549398(A;A) |
Make rs72549398(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 168932442 |
Gene | ABCB11 |
is a | snp |
is | mentioned by |
dbSNP | rs72549398 |
dbSNP (classic) | rs72549398 |
ClinGen | rs72549398 |
ebi | rs72549398 |
HLI | rs72549398 |
Exac | rs72549398 |
Gnomad | rs72549398 |
Varsome | rs72549398 |
LitVar | rs72549398 |
Map | rs72549398 |
PheGenI | rs72549398 |
Biobank | rs72549398 |
1000 genomes | rs72549398 |
hgdp | rs72549398 |
ensembl | rs72549398 |
geneview | rs72549398 |
scholar | rs72549398 |
rs72549398 | |
pharmgkb | rs72549398 |
gwascentral | rs72549398 |
openSNP | rs72549398 |
23andMe | rs72549398 |
SNPshot | rs72549398 |
SNPdbe | rs72549398 |
MSV3d | rs72549398 |
GWAS Ctlg | rs72549398 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72549398(A;A) |
Alt | rs72549398(A;A) |
Reference | Rs72549398(G;G) |
Significance | Pathogenic |
Disease | Abnormal liver function tests during pregnancy Intrahepatic cholestasis Pruritus |
Variation | info |
Gene | ABCB11 |
CLNDBN | Abnormal liver function tests during pregnancy Intrahepatic cholestasis Pruritus |
Reversed | 0 |
HGVS | NC_000002.11:g.169788952G>A |
CLNSRC | |
CLNACC | RCV000414921.1, |