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rs119479066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119479066(C;T)
Make rs119479066(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43826429
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs119479066
ebirs119479066
HLIrs119479066
Exacrs119479066
Varsomers119479066
Maprs119479066
PheGenIrs119479066
hapmaprs119479066
1000 genomesrs119479066
hgdprs119479066
ensemblrs119479066
gopubmedrs119479066
geneviewrs119479066
scholarrs119479066
googlers119479066
pharmgkbrs119479066
gwascentralrs119479066
openSNPrs119479066
23andMers119479066
23andMe allrs119479066
SNP Nexus

SNPshotrs119479066
SNPdbers119479066
MSV3drs119479066
GWAS Ctlgrs119479066
Max Magnitude0
OMIM605459
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119479066(T;T)
Alt rs119479066(T;T)
Reference rs119479066(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44053568G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005265.2,