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rs398122398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122398(C;C)
Make rs398122398(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position39225723
GenePDGFB
is asnp
is mentioned by
dbSNPrs398122398
ebirs398122398
HLIrs398122398
Exacrs398122398
Varsomers398122398
Maprs398122398
PheGenIrs398122398
hapmaprs398122398
1000 genomesrs398122398
hgdprs398122398
ensemblrs398122398
gopubmedrs398122398
geneviewrs398122398
scholarrs398122398
googlers398122398
pharmgkbrs398122398
gwascentralrs398122398
openSNPrs398122398
23andMers398122398
23andMe allrs398122398
SNP Nexus

SNPshotrs398122398
SNPdbers398122398
MSV3drs398122398
GWAS Ctlgrs398122398
Max Magnitude0
ClinVar
Risk rs398122398(C;C)
Alt rs398122398(C;C)
Reference rs398122398(G;G)
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.39621728C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000066216.16,