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rs397516810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516810(G;G)
Make rs397516810(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112477652
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516810
dbSNP (classic)rs397516810
ClinGenrs397516810
ebirs397516810
HLIrs397516810
Exacrs397516810
Gnomadrs397516810
Varsomers397516810
LitVarrs397516810
Maprs397516810
PheGenIrs397516810
Biobankrs397516810
1000 genomesrs397516810
hgdprs397516810
ensemblrs397516810
geneviewrs397516810
scholarrs397516810
googlers397516810
pharmgkbrs397516810
gwascentralrs397516810
openSNPrs397516810
23andMers397516810
SNPshotrs397516810
SNPdbers397516810
MSV3drs397516810
GWAS Ctlgrs397516810
Max Magnitude0
ClinVar
Risk rs397516810(G;G)
Alt rs397516810(G;G)
Reference Rs397516810(T;T)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112915456T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000037665.2, RCV000159052.3,