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rs397507514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507514(G;T)
Make rs397507514(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450408
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507514
ebirs397507514
HLIrs397507514
Exacrs397507514
Varsomers397507514
Maprs397507514
PheGenIrs397507514
hapmaprs397507514
1000 genomesrs397507514
hgdprs397507514
ensemblrs397507514
gopubmedrs397507514
geneviewrs397507514
scholarrs397507514
googlers397507514
pharmgkbrs397507514
gwascentralrs397507514
openSNPrs397507514
23andMers397507514
23andMe allrs397507514
SNP Nexus

SNPshotrs397507514
SNPdbers397507514
MSV3drs397507514
GWAS Ctlgrs397507514
Max Magnitude0
ClinVar
Risk rs397507514(C,T;C,T)
Alt rs397507514(C,T;C,T)
Reference rs397507514(G;G)
Significance Pathogenic
Disease Rasopathy Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888212G>C; NC_000012.11:g.112888212G>T
CLNSRC ClinVar
CLNACC RCV000033479.4, RCV000037638.2, RCV000033478.5, RCV000037639.3,