rs72558200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72558200(A;A) |
Make rs72558200(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 99836125 |
Gene | ABCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs72558200 |
dbSNP (classic) | rs72558200 |
ClinGen | rs72558200 |
ebi | rs72558200 |
HLI | rs72558200 |
Exac | rs72558200 |
Gnomad | rs72558200 |
Varsome | rs72558200 |
LitVar | rs72558200 |
Map | rs72558200 |
PheGenI | rs72558200 |
Biobank | rs72558200 |
1000 genomes | rs72558200 |
hgdp | rs72558200 |
ensembl | rs72558200 |
geneview | rs72558200 |
scholar | rs72558200 |
rs72558200 | |
pharmgkb | rs72558200 |
gwascentral | rs72558200 |
openSNP | rs72558200 |
23andMe | rs72558200 |
SNPshot | rs72558200 |
SNPdbe | rs72558200 |
MSV3d | rs72558200 |
GWAS Ctlg | rs72558200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72558200(A;A) |
Alt | rs72558200(A;A) |
Reference | Rs72558200(G;G) |
Significance | Pathogenic |
Disease | Dubin-Johnson syndrome |
Variation | info |
Gene | ABCC2 |
CLNDBN | Dubin-Johnson syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.101595882G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008930.5, |