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rs397507531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397507531(G;G)
Make rs397507531(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112473040
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507531
ebirs397507531
HLIrs397507531
Exacrs397507531
Varsomers397507531
Maprs397507531
PheGenIrs397507531
hapmaprs397507531
1000 genomesrs397507531
hgdprs397507531
ensemblrs397507531
gopubmedrs397507531
geneviewrs397507531
scholarrs397507531
googlers397507531
pharmgkbrs397507531
gwascentralrs397507531
openSNPrs397507531
23andMers397507531
23andMe allrs397507531
SNP Nexus

SNPshotrs397507531
SNPdbers397507531
MSV3drs397507531
GWAS Ctlgrs397507531
Max Magnitude0
ClinVar
Risk rs397507531(C,G;C,G)
Alt rs397507531(C,G;C,G)
Reference rs397507531(T;T)
Significance Pathogenic
Disease Noonan syndrome not provided Rasopathy
Variation info
Gene PTPN11
CLNDBN Noonan syndrome not provided Rasopathy
Reversed 0
HGVS NC_000012.11:g.112910844T>C; NC_000012.11:g.112910844T>G
CLNSRC HGMD
CLNACC RCV000037662.2, RCV000077861.6, RCV000231840.1, RCV000033507.2,