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rs397509382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509382(C;T)
Make rs397509382(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150117796
GenePDGFRB
is asnp
is mentioned by
dbSNPrs397509382
ebirs397509382
HLIrs397509382
Exacrs397509382
Varsomers397509382
Maprs397509382
PheGenIrs397509382
hapmaprs397509382
1000 genomesrs397509382
hgdprs397509382
ensemblrs397509382
gopubmedrs397509382
geneviewrs397509382
scholarrs397509382
googlers397509382
pharmgkbrs397509382
gwascentralrs397509382
openSNPrs397509382
23andMers397509382
23andMe allrs397509382
SNP Nexus

SNPshotrs397509382
SNPdbers397509382
MSV3drs397509382
GWAS Ctlgrs397509382
Max Magnitude0
ClinVar
Risk rs397509382(T;T)
Alt rs397509382(T;T)
Reference rs397509382(C;C)
Significance Pathogenic
Disease Basal ganglia calcification
Variation info
Gene PDGFRB
CLNDBN Basal ganglia calcification, idiopathic, 4
Reversed 1
HGVS NC_000005.9:g.149497359G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032789.27,