rs397514620
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514620(C;G) |
Make rs397514620(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 87439765 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs397514620 |
dbSNP (classic) | rs397514620 |
ClinGen | rs397514620 |
ebi | rs397514620 |
HLI | rs397514620 |
Exac | rs397514620 |
Gnomad | rs397514620 |
Varsome | rs397514620 |
LitVar | rs397514620 |
Map | rs397514620 |
PheGenI | rs397514620 |
Biobank | rs397514620 |
1000 genomes | rs397514620 |
hgdp | rs397514620 |
ensembl | rs397514620 |
geneview | rs397514620 |
scholar | rs397514620 |
rs397514620 | |
pharmgkb | rs397514620 |
gwascentral | rs397514620 |
openSNP | rs397514620 |
23andMe | rs397514620 |
SNPshot | rs397514620 |
SNPdbe | rs397514620 |
MSV3d | rs397514620 |
GWAS Ctlg | rs397514620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514620(G;G) rs397514620(T;T) |
Alt | rs397514620(G;G) rs397514620(T;T) |
Reference | Rs397514620(C;C) |
Significance | Pathogenic |
Disease | Cholecystitis |
Variation | info |
Gene | ABCB4 |
CLNDBN | Cholecystitis |
Reversed | 1 |
HGVS | NC_000007.13:g.87069081G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033068.26, |