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rs1060499540

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499540(A;T)
Make rs1060499540(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position150120925
GenePDGFRB
is asnp
is mentioned by
dbSNPrs1060499540
dbSNP (old)rs1060499540
ClinGenrs1060499540
ebirs1060499540
HLIrs1060499540
Exacrs1060499540
Gnomadrs1060499540
Varsomers1060499540
Maprs1060499540
PheGenIrs1060499540
Biobankrs1060499540
1000 genomesrs1060499540
hgdprs1060499540
ensemblrs1060499540
gopubmedrs1060499540
geneviewrs1060499540
scholarrs1060499540
googlers1060499540
pharmgkbrs1060499540
gwascentralrs1060499540
openSNPrs1060499540
23andMers1060499540
23andMe allrs1060499540
SNPshotrs1060499540
SNPdbers1060499540
MSV3drs1060499540
GWAS Ctlgrs1060499540
Max Magnitude0
ClinVar
Risk rs1060499540(T;T)
Alt rs1060499540(T;T)
Reference Rs1060499540(A;A)
Significance Pathogenic
Disease Infantile myofibromatosis
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis
Reversed 1
HGVS NC_000005.9:g.149500488T>A
CLNSRC
CLNACC RCV000454369.1,