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rs387906652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906652(C;G)
Make rs387906652(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position42417960
GeneSLC20A2
is asnp
is mentioned by
dbSNPrs387906652
ebirs387906652
HLIrs387906652
Exacrs387906652
Varsomers387906652
Maprs387906652
PheGenIrs387906652
hapmaprs387906652
1000 genomesrs387906652
hgdprs387906652
ensemblrs387906652
gopubmedrs387906652
geneviewrs387906652
scholarrs387906652
googlers387906652
pharmgkbrs387906652
gwascentralrs387906652
openSNPrs387906652
23andMers387906652
23andMe allrs387906652
SNP Nexus

SNPshotrs387906652
SNPdbers387906652
MSV3drs387906652
GWAS Ctlgrs387906652
Max Magnitude0
ClinVar
Risk rs387906652(G,T;G,T)
Alt rs387906652(G,T;G,T)
Reference rs387906652(C;C)
Significance Pathogenic
Disease Idiopathic basal ganglia calcification 1
Variation info
Gene SLC20A2
CLNDBN Idiopathic basal ganglia calcification 1
Reversed 1
HGVS NC_000008.10:g.42275478G>A; NC_000008.10:g.42275478G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172921.2, RCV000172920.3,