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rs119480069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119480069(A;A)
Make rs119480069(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43824071
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs119480069
ebirs119480069
HLIrs119480069
Exacrs119480069
Varsomers119480069
Maprs119480069
PheGenIrs119480069
hapmaprs119480069
1000 genomesrs119480069
hgdprs119480069
ensemblrs119480069
gopubmedrs119480069
geneviewrs119480069
scholarrs119480069
googlers119480069
pharmgkbrs119480069
gwascentralrs119480069
openSNPrs119480069
23andMers119480069
23andMe allrs119480069
SNP Nexus

SNPshotrs119480069
SNPdbers119480069
MSV3drs119480069
GWAS Ctlgrs119480069
Max Magnitude0
OMIM605459
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119480069(A;A)
Alt rs119480069(A;A)
Reference rs119480069(G;G)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44051210C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005268.2,