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rs138008832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138008832(G;T)
Make rs138008832(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150123142
GenePDGFRB
is asnp
is mentioned by
dbSNPrs138008832
dbSNP (classic)rs138008832
ClinGenrs138008832
ebirs138008832
HLIrs138008832
Exacrs138008832
Gnomadrs138008832
Varsomers138008832
LitVarrs138008832
Maprs138008832
PheGenIrs138008832
Biobankrs138008832
1000 genomesrs138008832
hgdprs138008832
ensemblrs138008832
geneviewrs138008832
scholarrs138008832
googlers138008832
pharmgkbrs138008832
gwascentralrs138008832
openSNPrs138008832
23andMers138008832
SNPshotrs138008832
SNPdbers138008832
MSV3drs138008832
GWAS Ctlgrs138008832
Max Magnitude0
ClinVar
Risk rs138008832(A;A) rs138008832(T;T)
Alt rs138008832(A;A) rs138008832(T;T)
Reference Rs138008832(G;G)
Significance Probable-Pathogenic
Disease Basal ganglia calcification
Variation info
Gene PDGFRB
CLNDBN Basal ganglia calcification, idiopathic, 4
Reversed 0
HGVS NC_000005.9:g.149502705G>A
CLNSRC VariO
CLNACC RCV000128554.2,