rs183501729
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs183501729(C;T) |
Make rs183501729(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 21196975 |
Gene | SLCO1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs183501729 |
dbSNP (classic) | rs183501729 |
ClinGen | rs183501729 |
ebi | rs183501729 |
HLI | rs183501729 |
Exac | rs183501729 |
Gnomad | rs183501729 |
Varsome | rs183501729 |
LitVar | rs183501729 |
Map | rs183501729 |
PheGenI | rs183501729 |
Biobank | rs183501729 |
1000 genomes | rs183501729 |
hgdp | rs183501729 |
ensembl | rs183501729 |
geneview | rs183501729 |
scholar | rs183501729 |
rs183501729 | |
pharmgkb | rs183501729 |
gwascentral | rs183501729 |
openSNP | rs183501729 |
23andMe | rs183501729 |
SNPshot | rs183501729 |
SNPdbe | rs183501729 |
MSV3d | rs183501729 |
GWAS Ctlg | rs183501729 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs183501729(T;T) |
Alt | rs183501729(T;T) |
Reference | Rs183501729(C;C) |
Significance | Pathogenic |
Disease | Rotor syndrome |
Variation | info |
Gene | SLCO1B1 |
CLNDBN | Rotor syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.21349909C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023392.2, |