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rs869025574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGA;TGA) 0 common in clinvar
Make rs869025574(-;-)
Make rs869025574(-;GAT)
Make rs869025574(GAT;GAT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position112450361
GenePTPN11
is asnp
is mentioned by
dbSNPrs869025574
dbSNP (classic)rs869025574
ClinGenrs869025574
ebirs869025574
HLIrs869025574
Exacrs869025574
Gnomadrs869025574
Varsomers869025574
LitVarrs869025574
Maprs869025574
PheGenIrs869025574
Biobankrs869025574
1000 genomesrs869025574
hgdprs869025574
ensemblrs869025574
geneviewrs869025574
scholarrs869025574
googlers869025574
pharmgkbrs869025574
gwascentralrs869025574
openSNPrs869025574
23andMers869025574
SNPshotrs869025574
SNPdbers869025574
MSV3drs869025574
GWAS Ctlgrs869025574
Max Magnitude0
ClinVar
Risk rs869025574(-;-)
Alt rs869025574(-;-)
Reference Rs869025574(TGA;TGA)
Significance Pathogenic
Disease Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112888165_112888167delGAT
CLNSRC
CLNACC RCV000208567.1,