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rs397515632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515632(C;C)
Make rs397515632(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position39231722
GenePDGFB
is asnp
is mentioned by
dbSNPrs397515632
ebirs397515632
HLIrs397515632
Exacrs397515632
Varsomers397515632
Maprs397515632
PheGenIrs397515632
hapmaprs397515632
1000 genomesrs397515632
hgdprs397515632
ensemblrs397515632
gopubmedrs397515632
geneviewrs397515632
scholarrs397515632
googlers397515632
pharmgkbrs397515632
gwascentralrs397515632
openSNPrs397515632
23andMers397515632
23andMe allrs397515632
SNP Nexus

SNPshotrs397515632
SNPdbers397515632
MSV3drs397515632
GWAS Ctlgrs397515632
Max Magnitude0
ClinVar
Risk rs397515632(C;C)
Alt rs397515632(C;C)
Reference rs397515632(T;T)
Significance Pathogenic
Disease Idiopathic basal ganglia calcification 5
Variation info
Gene PDGFB
CLNDBN Idiopathic basal ganglia calcification 5
Reversed 1
HGVS NC_000022.10:g.39627727A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000066214.23,