Have questions? Visit https://www.reddit.com/r/SNPedia

rs119479065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119479065(C;T)
Make rs119479065(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43824015
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs119479065
ebirs119479065
HLIrs119479065
Exacrs119479065
Varsomers119479065
Maprs119479065
PheGenIrs119479065
hapmaprs119479065
1000 genomesrs119479065
hgdprs119479065
ensemblrs119479065
gopubmedrs119479065
geneviewrs119479065
scholarrs119479065
googlers119479065
pharmgkbrs119479065
gwascentralrs119479065
openSNPrs119479065
23andMers119479065
23andMe allrs119479065
SNP Nexus

SNPshotrs119479065
SNPdbers119479065
MSV3drs119479065
GWAS Ctlgrs119479065
Max Magnitude0
OMIM605459
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119479065(T;T)
Alt rs119479065(T;T)
Reference rs119479065(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44051154G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005264.2,