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rs137852993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852993(A;A)
Make rs137852993(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position43852483
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852993
ebirs137852993
HLIrs137852993
Exacrs137852993
Varsomers137852993
Maprs137852993
PheGenIrs137852993
hapmaprs137852993
1000 genomesrs137852993
hgdprs137852993
ensemblrs137852993
gopubmedrs137852993
geneviewrs137852993
scholarrs137852993
googlers137852993
pharmgkbrs137852993
gwascentralrs137852993
openSNPrs137852993
23andMers137852993
23andMe allrs137852993
SNP Nexus

SNPshotrs137852993
SNPdbers137852993
MSV3drs137852993
GWAS Ctlgrs137852993
Max Magnitude0
OMIM605460
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852993(A;A)
Alt rs137852993(A;A)
Reference rs137852993(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44079622C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005262.3,