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rs864309711

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309711(A;A)
Make rs864309711(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position150124275
GenePDGFRB
is asnp
is mentioned by
dbSNPrs864309711
ebirs864309711
HLIrs864309711
Exacrs864309711
Varsomers864309711
Maprs864309711
PheGenIrs864309711
hapmaprs864309711
1000 genomesrs864309711
hgdprs864309711
ensemblrs864309711
gopubmedrs864309711
geneviewrs864309711
scholarrs864309711
googlers864309711
pharmgkbrs864309711
gwascentralrs864309711
openSNPrs864309711
23andMers864309711
23andMe allrs864309711
SNP Nexus

SNPshotrs864309711
SNPdbers864309711
MSV3drs864309711
GWAS Ctlgrs864309711
Max Magnitude0
ClinVar
Risk rs864309711(A;A)
Alt rs864309711(A;A)
Reference rs864309711(C;C)
Significance Probable-Pathogenic
Disease Infantile myofibromatosis 1
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis 1
Reversed 1
HGVS NC_000005.9:g.149503838G>T
CLNSRC Baylor College of Medicine
CLNACC RCV000203292.1,