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rs397507518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507518(A;A)
Make rs397507518(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450508
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507518
ebirs397507518
HLIrs397507518
Exacrs397507518
Varsomers397507518
Maprs397507518
PheGenIrs397507518
hapmaprs397507518
1000 genomesrs397507518
hgdprs397507518
ensemblrs397507518
gopubmedrs397507518
geneviewrs397507518
scholarrs397507518
googlers397507518
pharmgkbrs397507518
gwascentralrs397507518
openSNPrs397507518
23andMers397507518
23andMe allrs397507518
SNP Nexus

SNPshotrs397507518
SNPdbers397507518
MSV3drs397507518
GWAS Ctlgrs397507518
Max Magnitude0
ClinVar
Risk rs397507518(A;A)
Alt rs397507518(A;A)
Reference rs397507518(G;G)
Significance Pathogenic
Disease Rasopathy Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888312G>A
CLNSRC ClinVar
CLNACC RCV000033484.4, RCV000037645.2,