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rs1060499543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGAAGG;GGAAGG) 0 common in clinvar
Make rs1060499543(-;-)
Make rs1060499543(-;GGAAGG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position150125550
GenePDGFRB
is asnp
is mentioned by
dbSNPrs1060499543
dbSNP (old)rs1060499543
ClinGenrs1060499543
ebirs1060499543
HLIrs1060499543
Exacrs1060499543
Gnomadrs1060499543
Varsomers1060499543
Maprs1060499543
PheGenIrs1060499543
Biobankrs1060499543
1000 genomesrs1060499543
hgdprs1060499543
ensemblrs1060499543
gopubmedrs1060499543
geneviewrs1060499543
scholarrs1060499543
googlers1060499543
pharmgkbrs1060499543
gwascentralrs1060499543
openSNPrs1060499543
23andMers1060499543
23andMe allrs1060499543
SNPshotrs1060499543
SNPdbers1060499543
MSV3drs1060499543
GWAS Ctlgrs1060499543
Max Magnitude0
ClinVar
Risk rs1060499543(-;-)
Alt rs1060499543(-;-)
Reference Rs1060499543(GGAAGG;GGAAGG)
Significance Pathogenic
Disease Infantile myofibromatosis
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis
Reversed 1
HGVS NC_000005.9:g.149505113_149505118delCCTTCC
CLNSRC
CLNACC RCV000454373.1,