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rs397516803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516803(A;A)
Make rs397516803(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450415
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516803
ebirs397516803
HLIrs397516803
Exacrs397516803
Varsomers397516803
Maprs397516803
PheGenIrs397516803
hapmaprs397516803
1000 genomesrs397516803
hgdprs397516803
ensemblrs397516803
gopubmedrs397516803
geneviewrs397516803
scholarrs397516803
googlers397516803
pharmgkbrs397516803
gwascentralrs397516803
openSNPrs397516803
23andMers397516803
23andMe allrs397516803
SNP Nexus

SNPshotrs397516803
SNPdbers397516803
MSV3drs397516803
GWAS Ctlgrs397516803
Max Magnitude0
ClinVar
Risk rs397516803(A;A)
Alt rs397516803(A;A)
Reference rs397516803(C;C)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888219C>A
CLNSRC ClinVar
CLNACC RCV000037640.2,