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rs119479067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119479067(A;A)
Make rs119479067(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43823981
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs119479067
ebirs119479067
HLIrs119479067
Exacrs119479067
Varsomers119479067
Maprs119479067
PheGenIrs119479067
hapmaprs119479067
1000 genomesrs119479067
hgdprs119479067
ensemblrs119479067
gopubmedrs119479067
geneviewrs119479067
scholarrs119479067
googlers119479067
pharmgkbrs119479067
gwascentralrs119479067
openSNPrs119479067
23andMers119479067
23andMe allrs119479067
SNP Nexus

SNPshotrs119479067
SNPdbers119479067
MSV3drs119479067
GWAS Ctlgrs119479067
Max Magnitude0
OMIM605459
Desc
Variant0003
Relatedalso
OMIM605459
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119479067(A,C;A,C)
Alt rs119479067(A,C;A,C)
Reference rs119479067(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44051120C>G; NC_000002.11:g.44051120C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005267.2, RCV000005266.2,