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rs398122399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122399(A;A)
Make rs398122399(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position39243961
GenePDGFB
is asnp
is mentioned by
dbSNPrs398122399
ebirs398122399
HLIrs398122399
Exacrs398122399
Varsomers398122399
Maprs398122399
PheGenIrs398122399
hapmaprs398122399
1000 genomesrs398122399
hgdprs398122399
ensemblrs398122399
gopubmedrs398122399
geneviewrs398122399
scholarrs398122399
googlers398122399
pharmgkbrs398122399
gwascentralrs398122399
openSNPrs398122399
23andMers398122399
23andMe allrs398122399
SNP Nexus

SNPshotrs398122399
SNPdbers398122399
MSV3drs398122399
GWAS Ctlgrs398122399
Max Magnitude0
ClinVar
Risk rs398122399(A;A)
Alt rs398122399(A;A)
Reference rs398122399(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.39639966C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000066220.23,