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rs397509381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397509381(C;C)
Make rs397509381(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150124300
GenePDGFRB
is asnp
is mentioned by
dbSNPrs397509381
ebirs397509381
HLIrs397509381
Exacrs397509381
Varsomers397509381
Maprs397509381
PheGenIrs397509381
hapmaprs397509381
1000 genomesrs397509381
hgdprs397509381
ensemblrs397509381
gopubmedrs397509381
geneviewrs397509381
scholarrs397509381
googlers397509381
pharmgkbrs397509381
gwascentralrs397509381
openSNPrs397509381
23andMers397509381
23andMe allrs397509381
SNP Nexus

SNPshotrs397509381
SNPdbers397509381
MSV3drs397509381
GWAS Ctlgrs397509381
Max Magnitude0
ClinVar
Risk rs397509381(C;C)
Alt rs397509381(C;C)
Reference rs397509381(T;T)
Significance Pathogenic
Disease Basal ganglia calcification
Variation info
Gene PDGFRB
CLNDBN Basal ganglia calcification, idiopathic, 4
Reversed 1
HGVS NC_000005.9:g.149503863A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032788.26,