rs1202283
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs1202283(A;A) |
Make rs1202283(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 87452976 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs1202283 |
dbSNP (classic) | rs1202283 |
ClinGen | rs1202283 |
ebi | rs1202283 |
HLI | rs1202283 |
Exac | rs1202283 |
Gnomad | rs1202283 |
Varsome | rs1202283 |
LitVar | rs1202283 |
Map | rs1202283 |
PheGenI | rs1202283 |
Biobank | rs1202283 |
1000 genomes | rs1202283 |
hgdp | rs1202283 |
ensembl | rs1202283 |
geneview | rs1202283 |
scholar | rs1202283 |
rs1202283 | |
pharmgkb | rs1202283 |
gwascentral | rs1202283 |
openSNP | rs1202283 |
23andMe | rs1202283 |
SNPshot | rs1202283 |
SNPdbe | rs1202283 |
MSV3d | rs1202283 |
GWAS Ctlg | rs1202283 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 27158408] Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.
ClinVar | |
---|---|
Risk | rs1202283(A;A) |
Alt | rs1202283(A;A) |
Reference | Rs1202283(G;G) |
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 | 0 |
HGVS | NC_000007.13:g.87082292G>A |
CLNSRC | |
CLNACC | RCV000179313.3, RCV000288953.1, RCV000346207.1, |