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rs397516801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516801(A;G)
Make rs397516801(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450389
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516801
ebirs397516801
HLIrs397516801
Exacrs397516801
Varsomers397516801
Maprs397516801
PheGenIrs397516801
hapmaprs397516801
1000 genomesrs397516801
hgdprs397516801
ensemblrs397516801
gopubmedrs397516801
geneviewrs397516801
scholarrs397516801
googlers397516801
pharmgkbrs397516801
gwascentralrs397516801
openSNPrs397516801
23andMers397516801
23andMe allrs397516801
SNP Nexus

SNPshotrs397516801
SNPdbers397516801
MSV3drs397516801
GWAS Ctlgrs397516801
Max Magnitude0
ClinVar
Risk rs397516801(G;G)
Alt rs397516801(G;G)
Reference rs397516801(A;A)
Significance Pathogenic
Disease Noonan syndrome Rasopathy
Variation info
Gene PTPN11
CLNDBN Noonan syndrome Rasopathy
Reversed 0
HGVS NC_000012.11:g.112888193A>G
CLNSRC ClinVar
CLNACC RCV000037634.3, RCV000206837.1,