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rs397507501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507501(A;G)
Make rs397507501(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112446385
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507501
ebirs397507501
HLIrs397507501
Exacrs397507501
Varsomers397507501
Maprs397507501
PheGenIrs397507501
hapmaprs397507501
1000 genomesrs397507501
hgdprs397507501
ensemblrs397507501
gopubmedrs397507501
geneviewrs397507501
scholarrs397507501
googlers397507501
pharmgkbrs397507501
gwascentralrs397507501
openSNPrs397507501
23andMers397507501
23andMe allrs397507501
SNP Nexus

SNPshotrs397507501
SNPdbers397507501
MSV3drs397507501
GWAS Ctlgrs397507501
Max Magnitude0
ClinVar
Risk rs397507501(G;G)
Alt rs397507501(G;G)
Reference rs397507501(A;A)
Significance Pathogenic
Disease Noonan syndrome not provided Rasopathy
Variation info
Gene PTPN11
CLNDBN Noonan syndrome not provided Rasopathy
Reversed 0
HGVS NC_000012.11:g.112884189A>G
CLNSRC ClinVar
CLNACC RCV000157002.3, RCV000157675.2, RCV000227194.1,