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rs397516809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516809(G;T)
Make rs397516809(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112472961
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516809
dbSNP (classic)rs397516809
ClinGenrs397516809
ebirs397516809
HLIrs397516809
Exacrs397516809
Gnomadrs397516809
Varsomers397516809
LitVarrs397516809
Maprs397516809
PheGenIrs397516809
Biobankrs397516809
1000 genomesrs397516809
hgdprs397516809
ensemblrs397516809
geneviewrs397516809
scholarrs397516809
googlers397516809
pharmgkbrs397516809
gwascentralrs397516809
openSNPrs397516809
23andMers397516809
SNPshotrs397516809
SNPdbers397516809
MSV3drs397516809
GWAS Ctlgrs397516809
Max Magnitude0
ClinVar
Risk rs397516809(T;T)
Alt rs397516809(T;T)
Reference Rs397516809(G;G)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112910765G>T
CLNSRC ClinVar
CLNACC RCV000037656.3, RCV000159049.2,