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rs1060499541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060499541(-;GAT)
Make rs1060499541(GAT;GAT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position150126578
GenePDGFRB
is asnp
is mentioned by
dbSNPrs1060499541
dbSNP (old)rs1060499541
ClinGenrs1060499541
ebirs1060499541
HLIrs1060499541
Exacrs1060499541
Gnomadrs1060499541
Varsomers1060499541
Maprs1060499541
PheGenIrs1060499541
Biobankrs1060499541
1000 genomesrs1060499541
hgdprs1060499541
ensemblrs1060499541
gopubmedrs1060499541
geneviewrs1060499541
scholarrs1060499541
googlers1060499541
pharmgkbrs1060499541
gwascentralrs1060499541
openSNPrs1060499541
23andMers1060499541
23andMe allrs1060499541
SNPshotrs1060499541
SNPdbers1060499541
MSV3drs1060499541
GWAS Ctlgrs1060499541
Max Magnitude0
ClinVar
Risk rs1060499541(GAT;GAT)
Alt rs1060499541(GAT;GAT)
Reference Rs1060499541(-;-)
Significance Pathogenic
Disease Infantile myofibromatosis
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis
Reversed 1
HGVS NC_000005.9:g.149506141_149506142insATC
CLNSRC
CLNACC RCV000454368.1,