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rs137852987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852987(A;A)
Make rs137852987(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43872094
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852987
ebirs137852987
HLIrs137852987
Exacrs137852987
Varsomers137852987
Maprs137852987
PheGenIrs137852987
hapmaprs137852987
1000 genomesrs137852987
hgdprs137852987
ensemblrs137852987
gopubmedrs137852987
geneviewrs137852987
scholarrs137852987
googlers137852987
pharmgkbrs137852987
gwascentralrs137852987
openSNPrs137852987
23andMers137852987
23andMe allrs137852987
SNP Nexus

SNPshotrs137852987
SNPdbers137852987
MSV3drs137852987
GWAS Ctlgrs137852987
Max Magnitude0
OMIM605460
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852987(A,T;A,T)
Alt rs137852987(A,T;A,T)
Reference rs137852987(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44099233G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005255.3,