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rs137852990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852990(A;A)
Make rs137852990(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43852692
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852990
ebirs137852990
HLIrs137852990
Exacrs137852990
Varsomers137852990
Maprs137852990
PheGenIrs137852990
hapmaprs137852990
1000 genomesrs137852990
hgdprs137852990
ensemblrs137852990
gopubmedrs137852990
geneviewrs137852990
scholarrs137852990
googlers137852990
pharmgkbrs137852990
gwascentralrs137852990
openSNPrs137852990
23andMers137852990
23andMe allrs137852990
SNP Nexus

SNPshotrs137852990
SNPdbers137852990
MSV3drs137852990
GWAS Ctlgrs137852990
GMAF0.0009183
Max Magnitude0
OMIM605460
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852990(A;A)
Alt rs137852990(A;A)
Reference rs137852990(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44079831G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005258.2,