rs2230028
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2230028(A;G) |
Make rs2230028(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 87426860 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs2230028 |
dbSNP (classic) | rs2230028 |
ClinGen | rs2230028 |
ebi | rs2230028 |
HLI | rs2230028 |
Exac | rs2230028 |
Gnomad | rs2230028 |
Varsome | rs2230028 |
LitVar | rs2230028 |
Map | rs2230028 |
PheGenI | rs2230028 |
Biobank | rs2230028 |
1000 genomes | rs2230028 |
hgdp | rs2230028 |
ensembl | rs2230028 |
geneview | rs2230028 |
scholar | rs2230028 |
rs2230028 | |
pharmgkb | rs2230028 |
gwascentral | rs2230028 |
openSNP | rs2230028 |
23andMe | rs2230028 |
SNPshot | rs2230028 |
SNPdbe | rs2230028 |
MSV3d | rs2230028 |
GWAS Ctlg | rs2230028 |
Max Magnitude | 0 |
[PMID 27158408] Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.
ClinVar | |
---|---|
Risk | rs2230028(C;C) rs2230028(G;G) |
Alt | rs2230028(C;C) rs2230028(G;G) |
Reference | Rs2230028(A;A) |
Significance | Non-pathogenic |
Disease | not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis |
Variation | info |
Gene | ABCB4 |
CLNDBN | not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis |
Reversed | 1 |
HGVS | NC_000007.13:g.87056176T>C |
CLNSRC | |
CLNACC | RCV000245480.3, RCV000295673.1, RCV000343693.1, |