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rs397507530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507530(C;G)
Make rs397507530(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112473033
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507530
ebirs397507530
HLIrs397507530
Exacrs397507530
Varsomers397507530
Maprs397507530
PheGenIrs397507530
hapmaprs397507530
1000 genomesrs397507530
hgdprs397507530
ensemblrs397507530
gopubmedrs397507530
geneviewrs397507530
scholarrs397507530
googlers397507530
pharmgkbrs397507530
gwascentralrs397507530
openSNPrs397507530
23andMers397507530
23andMe allrs397507530
SNP Nexus

SNPshotrs397507530
SNPdbers397507530
MSV3drs397507530
GWAS Ctlgrs397507530
Max Magnitude0
ClinVar
Risk rs397507530(G;G)
Alt rs397507530(G;G)
Reference rs397507530(C;C)
Significance Pathogenic
Disease Rasopathy Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112910837C>G
CLNSRC ClinVar
CLNACC RCV000033506.4, RCV000037661.3,