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rs137852989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852989(C;G)
Make rs137852989(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43877865
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852989
ebirs137852989
HLIrs137852989
Exacrs137852989
Varsomers137852989
Maprs137852989
PheGenIrs137852989
hapmaprs137852989
1000 genomesrs137852989
hgdprs137852989
ensemblrs137852989
gopubmedrs137852989
geneviewrs137852989
scholarrs137852989
googlers137852989
pharmgkbrs137852989
gwascentralrs137852989
openSNPrs137852989
23andMers137852989
23andMe allrs137852989
SNP Nexus

SNPshotrs137852989
SNPdbers137852989
MSV3drs137852989
GWAS Ctlgrs137852989
Max Magnitude0
OMIM605460
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852989(G;G)
Alt rs137852989(G;G)
Reference rs137852989(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44105004C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005257.2,