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rs397515633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515633(C;T)
Make rs397515633(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position39231633
GenePDGFB
is asnp
is mentioned by
dbSNPrs397515633
ebirs397515633
HLIrs397515633
Exacrs397515633
Varsomers397515633
Maprs397515633
PheGenIrs397515633
hapmaprs397515633
1000 genomesrs397515633
hgdprs397515633
ensemblrs397515633
gopubmedrs397515633
geneviewrs397515633
scholarrs397515633
googlers397515633
pharmgkbrs397515633
gwascentralrs397515633
openSNPrs397515633
23andMers397515633
23andMe allrs397515633
SNP Nexus

SNPshotrs397515633
SNPdbers397515633
MSV3drs397515633
GWAS Ctlgrs397515633
Max Magnitude0
ClinVar
Risk rs397515633(T;T)
Alt rs397515633(T;T)
Reference rs397515633(C;C)
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.39627638G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000066218.16,