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rs199689137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199689137(A;A)
Make rs199689137(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43822924
GeneABCG5
is asnp
is mentioned by
dbSNPrs199689137
ebirs199689137
HLIrs199689137
Exacrs199689137
Varsomers199689137
Maprs199689137
PheGenIrs199689137
hapmaprs199689137
1000 genomesrs199689137
hgdprs199689137
ensemblrs199689137
gopubmedrs199689137
geneviewrs199689137
scholarrs199689137
googlers199689137
pharmgkbrs199689137
gwascentralrs199689137
openSNPrs199689137
23andMers199689137
23andMe allrs199689137
SNP Nexus

SNPshotrs199689137
SNPdbers199689137
MSV3drs199689137
GWAS Ctlgrs199689137
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199689137(A,C,T;A,C,T)
Alt rs199689137(A,C,T;A,C,T)
Reference rs199689137(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44050063G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023442.2,