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rs397507506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507506(A;A)
Make rs397507506(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450354
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507506
ebirs397507506
HLIrs397507506
Exacrs397507506
Varsomers397507506
Maprs397507506
PheGenIrs397507506
hapmaprs397507506
1000 genomesrs397507506
hgdprs397507506
ensemblrs397507506
gopubmedrs397507506
geneviewrs397507506
scholarrs397507506
googlers397507506
pharmgkbrs397507506
gwascentralrs397507506
openSNPrs397507506
23andMers397507506
23andMe allrs397507506
SNP Nexus

SNPshotrs397507506
SNPdbers397507506
MSV3drs397507506
GWAS Ctlgrs397507506
Max Magnitude0
ClinVar
Risk rs397507506(A,G;A,G)
Alt rs397507506(A,G;A,G)
Reference rs397507506(C;C)
Significance Pathogenic
Disease Noonan syndrome not provided Rasopathy Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Noonan syndrome not provided Rasopathy Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112888158C>A; NC_000012.11:g.112888158C>G
CLNSRC ClinVar
CLNACC RCV000037629.2, RCV000157677.2, RCV000033457.4, RCV000037630.4, RCV000211846.1,