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rs137852991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852991(C;T)
Make rs137852991(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43873809
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852991
ebirs137852991
HLIrs137852991
Exacrs137852991
Varsomers137852991
Maprs137852991
PheGenIrs137852991
hapmaprs137852991
1000 genomesrs137852991
hgdprs137852991
ensemblrs137852991
gopubmedrs137852991
geneviewrs137852991
scholarrs137852991
googlers137852991
pharmgkbrs137852991
gwascentralrs137852991
openSNPrs137852991
23andMers137852991
23andMe allrs137852991
SNP Nexus

SNPshotrs137852991
SNPdbers137852991
MSV3drs137852991
GWAS Ctlgrs137852991
Max Magnitude0
OMIM605460
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852991(T;T)
Alt rs137852991(T;T)
Reference rs137852991(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44100948C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005260.2,