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rs119480070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119480070(G;T)
Make rs119480070(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43837870
GeneABCG5, ABCG8
is asnp
is mentioned by
dbSNPrs119480070
ebirs119480070
HLIrs119480070
Exacrs119480070
Varsomers119480070
Maprs119480070
PheGenIrs119480070
hapmaprs119480070
1000 genomesrs119480070
hgdprs119480070
ensemblrs119480070
gopubmedrs119480070
geneviewrs119480070
scholarrs119480070
googlers119480070
pharmgkbrs119480070
gwascentralrs119480070
openSNPrs119480070
23andMers119480070
23andMe allrs119480070
SNP Nexus

SNPshotrs119480070
SNPdbers119480070
MSV3drs119480070
GWAS Ctlgrs119480070
Max Magnitude0
OMIM605459
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119480070(T;T)
Alt rs119480070(T;T)
Reference rs119480070(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG5 ABCG8
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44065009C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005269.2,