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rs137852992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852992(G;G)
Make rs137852992(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43877591
GeneABCG8
is asnp
is mentioned by
dbSNPrs137852992
ebirs137852992
HLIrs137852992
Exacrs137852992
Varsomers137852992
Maprs137852992
PheGenIrs137852992
hapmaprs137852992
1000 genomesrs137852992
hgdprs137852992
ensemblrs137852992
gopubmedrs137852992
geneviewrs137852992
scholarrs137852992
googlers137852992
pharmgkbrs137852992
gwascentralrs137852992
openSNPrs137852992
23andMers137852992
23andMe allrs137852992
SNP Nexus

SNPshotrs137852992
SNPdbers137852992
MSV3drs137852992
GWAS Ctlgrs137852992
Max Magnitude0
OMIM605460
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852992(G;G)
Alt rs137852992(G;G)
Reference rs137852992(T;T)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44104730T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005261.2,