Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917848(C;C)
Make rs121917848(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position103051290
GeneSLC10A2
is asnp
is mentioned by
dbSNPrs121917848
dbSNP (classic)rs121917848
ClinGenrs121917848
ebirs121917848
HLIrs121917848
Exacrs121917848
Gnomadrs121917848
Varsomers121917848
LitVarrs121917848
Maprs121917848
PheGenIrs121917848
Biobankrs121917848
1000 genomesrs121917848
hgdprs121917848
ensemblrs121917848
geneviewrs121917848
scholarrs121917848
googlers121917848
pharmgkbrs121917848
gwascentralrs121917848
openSNPrs121917848
23andMers121917848
SNPshotrs121917848
SNPdbers121917848
MSV3drs121917848
GWAS Ctlgrs121917848
Max Magnitude0
OMIM601295
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917848(C;C)
Alt rs121917848(C;C)
Reference Rs121917848(T;T)
Significance Pathogenic
Disease Bile acid malabsorption
Variation info
Gene SLC10A2
CLNDBN Bile acid malabsorption, primary
Reversed 1
HGVS NC_000013.10:g.103703640A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008724.4,