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rs397507512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397507512(C;C)
Make rs397507512(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450391
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507512
ebirs397507512
HLIrs397507512
Exacrs397507512
Varsomers397507512
Maprs397507512
PheGenIrs397507512
hapmaprs397507512
1000 genomesrs397507512
hgdprs397507512
ensemblrs397507512
gopubmedrs397507512
geneviewrs397507512
scholarrs397507512
googlers397507512
pharmgkbrs397507512
gwascentralrs397507512
openSNPrs397507512
23andMers397507512
23andMe allrs397507512
SNP Nexus

SNPshotrs397507512
SNPdbers397507512
MSV3drs397507512
GWAS Ctlgrs397507512
Max Magnitude0
ClinVar
Risk rs397507512(C,G;C,G)
Alt rs397507512(C,G;C,G)
Reference rs397507512(T;T)
Significance Pathogenic
Disease not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888195T>C; NC_000012.11:g.112888195T>G
CLNSRC ClinVar
CLNACC RCV000033470.4, RCV000151689.1, RCV000159044.1,