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rs397507511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507511(C;C)
Make rs397507511(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450385
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507511
ebirs397507511
HLIrs397507511
Exacrs397507511
Varsomers397507511
Maprs397507511
PheGenIrs397507511
hapmaprs397507511
1000 genomesrs397507511
hgdprs397507511
ensemblrs397507511
gopubmedrs397507511
geneviewrs397507511
scholarrs397507511
googlers397507511
pharmgkbrs397507511
gwascentralrs397507511
openSNPrs397507511
23andMers397507511
23andMe allrs397507511
SNP Nexus

SNPshotrs397507511
SNPdbers397507511
MSV3drs397507511
GWAS Ctlgrs397507511
Max Magnitude0
ClinVar
Risk rs397507511(C;C)
Alt rs397507511(C;C)
Reference rs397507511(G;G)
Significance Pathogenic
Disease not provided Rasopathy Noonan syndrome
Variation info
Gene PTPN11
CLNDBN not provided Rasopathy Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888189G>A; NC_000012.11:g.112888189G>C
CLNSRC ClinVar
CLNACC RCV000210038.1, RCV000033469.6, RCV000037633.3, RCV000212889.1,