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rs869025350

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025350(-;-)
Make rs869025350(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position43824359
GeneABCG5, DYNC2LI1
is asnp
is mentioned by
dbSNPrs869025350
ebirs869025350
HLIrs869025350
Exacrs869025350
Varsomers869025350
Maprs869025350
PheGenIrs869025350
hapmaprs869025350
1000 genomesrs869025350
hgdprs869025350
ensemblrs869025350
gopubmedrs869025350
geneviewrs869025350
scholarrs869025350
googlers869025350
pharmgkbrs869025350
gwascentralrs869025350
openSNPrs869025350
23andMers869025350
23andMe allrs869025350
SNP Nexus

SNPshotrs869025350
SNPdbers869025350
MSV3drs869025350
GWAS Ctlgrs869025350
Max Magnitude0
ClinVar
Risk rs869025350(;)
Alt rs869025350(;)
Reference rs869025350(A;A)
Significance Probable-Pathogenic
Disease Sitosterolemia
Variation info
Gene DYNC2LI1 ABCG5
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44051498delT
CLNSRC
CLNACC RCV000208063.1,