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rs397516802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs397516802(AC;CT)
Make rs397516802(CT;CT)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450397
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516802
ebirs397516802
HLIrs397516802
Exacrs397516802
Varsomers397516802
Maprs397516802
PheGenIrs397516802
hapmaprs397516802
1000 genomesrs397516802
hgdprs397516802
ensemblrs397516802
gopubmedrs397516802
geneviewrs397516802
scholarrs397516802
googlers397516802
pharmgkbrs397516802
gwascentralrs397516802
openSNPrs397516802
23andMers397516802
23andMe allrs397516802
SNP Nexus

SNPshotrs397516802
SNPdbers397516802
MSV3drs397516802
GWAS Ctlgrs397516802
Max Magnitude0
ClinVar
Risk rs397516802(CT;CT)
Alt rs397516802(CT;CT)
Reference rs397516802(AC;AC)
Significance Pathogenic
Disease Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888201_112888202delACinsCT
CLNSRC ClinVar
CLNACC RCV000037637.2,