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rs137852988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852988(A;A)
Make rs137852988(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43875377
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852988
ebirs137852988
HLIrs137852988
Exacrs137852988
Varsomers137852988
Maprs137852988
PheGenIrs137852988
hapmaprs137852988
1000 genomesrs137852988
hgdprs137852988
ensemblrs137852988
gopubmedrs137852988
geneviewrs137852988
scholarrs137852988
googlers137852988
pharmgkbrs137852988
gwascentralrs137852988
openSNPrs137852988
23andMers137852988
23andMe allrs137852988
SNP Nexus

SNPshotrs137852988
SNPdbers137852988
MSV3drs137852988
GWAS Ctlgrs137852988
Max Magnitude0
OMIM605460
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852988(A;A)
Alt rs137852988(A;A)
Reference rs137852988(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44102516G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005256.3,