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rs1060499542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499542(C;C)
Make rs1060499542(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position150125556
GenePDGFRB
is asnp
is mentioned by
dbSNPrs1060499542
dbSNP (old)rs1060499542
ClinGenrs1060499542
ebirs1060499542
HLIrs1060499542
Exacrs1060499542
Gnomadrs1060499542
Varsomers1060499542
Maprs1060499542
PheGenIrs1060499542
Biobankrs1060499542
1000 genomesrs1060499542
hgdprs1060499542
ensemblrs1060499542
gopubmedrs1060499542
geneviewrs1060499542
scholarrs1060499542
googlers1060499542
pharmgkbrs1060499542
gwascentralrs1060499542
openSNPrs1060499542
23andMers1060499542
23andMe allrs1060499542
SNPshotrs1060499542
SNPdbers1060499542
MSV3drs1060499542
GWAS Ctlgrs1060499542
Max Magnitude0
ClinVar
Risk rs1060499542(C;C)
Alt rs1060499542(C;C)
Reference Rs1060499542(T;T)
Significance Pathogenic
Disease Infantile myofibromatosis
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis
Reversed 1
HGVS NC_000005.9:g.149505119A>G
CLNSRC
CLNACC RCV000454367.1,