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rs863224946

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224946(C;G)
Make rs863224946(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position150125501
GenePDGFRB
is asnp
is mentioned by
dbSNPrs863224946
ebirs863224946
HLIrs863224946
Exacrs863224946
Varsomers863224946
Maprs863224946
PheGenIrs863224946
hapmaprs863224946
1000 genomesrs863224946
hgdprs863224946
ensemblrs863224946
gopubmedrs863224946
geneviewrs863224946
scholarrs863224946
googlers863224946
pharmgkbrs863224946
gwascentralrs863224946
openSNPrs863224946
23andMers863224946
23andMe allrs863224946
SNP Nexus

SNPshotrs863224946
SNPdbers863224946
MSV3drs863224946
GWAS Ctlgrs863224946
Max Magnitude0
ClinVar
Risk rs863224946(G;G)
Alt rs863224946(G;G)
Reference rs863224946(C;C)
Significance Pathogenic
Disease Kosaki overgrowth syndrome
Variation info
Gene PDGFRB
CLNDBN Kosaki overgrowth syndrome
Reversed 1
HGVS NC_000005.9:g.149505064G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000200957.2,