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rs397507545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507545(C;C)
Make rs397507545(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489083
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507545
ebirs397507545
HLIrs397507545
Exacrs397507545
Varsomers397507545
Maprs397507545
PheGenIrs397507545
hapmaprs397507545
1000 genomesrs397507545
hgdprs397507545
ensemblrs397507545
gopubmedrs397507545
geneviewrs397507545
scholarrs397507545
googlers397507545
pharmgkbrs397507545
gwascentralrs397507545
openSNPrs397507545
23andMers397507545
23andMe allrs397507545
SNP Nexus

SNPshotrs397507545
SNPdbers397507545
MSV3drs397507545
GWAS Ctlgrs397507545
Max Magnitude0
ClinVar
Risk rs397507545(A,C;A,C)
Alt rs397507545(A,C;A,C)
Reference rs397507545(G;G)
Significance Pathogenic
Disease Rasopathy not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112926887G>A; NC_000012.11:g.112926887G>C
CLNSRC HGMD
CLNACC RCV000033546.6, RCV000077852.4, RCV000157015.1, RCV000033545.5, RCV000156971.1, RCV000210040.1,