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rs397515631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515631(C;T)
Make rs397515631(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position39231645
GenePDGFB
is asnp
is mentioned by
dbSNPrs397515631
ebirs397515631
HLIrs397515631
Exacrs397515631
Varsomers397515631
Maprs397515631
PheGenIrs397515631
hapmaprs397515631
1000 genomesrs397515631
hgdprs397515631
ensemblrs397515631
gopubmedrs397515631
geneviewrs397515631
scholarrs397515631
googlers397515631
pharmgkbrs397515631
gwascentralrs397515631
openSNPrs397515631
23andMers397515631
23andMe allrs397515631
SNP Nexus

SNPshotrs397515631
SNPdbers397515631
MSV3drs397515631
GWAS Ctlgrs397515631
Max Magnitude0
ClinVar
Risk rs397515631(T;T)
Alt rs397515631(T;T)
Reference rs397515631(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.39627650G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000066212.24,