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rs397507540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507540(A;A)
Make rs397507540(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489048
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507540
ebirs397507540
HLIrs397507540
Exacrs397507540
Varsomers397507540
Maprs397507540
PheGenIrs397507540
hapmaprs397507540
1000 genomesrs397507540
hgdprs397507540
ensemblrs397507540
gopubmedrs397507540
geneviewrs397507540
scholarrs397507540
googlers397507540
pharmgkbrs397507540
gwascentralrs397507540
openSNPrs397507540
23andMers397507540
23andMe allrs397507540
SNP Nexus

SNPshotrs397507540
SNPdbers397507540
MSV3drs397507540
GWAS Ctlgrs397507540
Max Magnitude0
ClinVar
Risk rs397507540(A,T;A,T)
Alt rs397507540(A,T;A,T)
Reference rs397507540(C;C)
Significance Pathogenic
Disease not provided Noonan syndrome Rasopathy
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome Rasopathy
Reversed 0
HGVS NC_000012.11:g.112926852C>A; NC_000012.11:g.112926852C>T
CLNSRC ClinVar
CLNACC RCV000033537.4, RCV000037617.3, RCV000033538.5, RCV000156989.1,