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rs397507517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507517(A;C)
Make rs397507517(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450497
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507517
ebirs397507517
HLIrs397507517
Exacrs397507517
Varsomers397507517
Maprs397507517
PheGenIrs397507517
hapmaprs397507517
1000 genomesrs397507517
hgdprs397507517
ensemblrs397507517
gopubmedrs397507517
geneviewrs397507517
scholarrs397507517
googlers397507517
pharmgkbrs397507517
gwascentralrs397507517
openSNPrs397507517
23andMers397507517
23andMe allrs397507517
SNP Nexus

SNPshotrs397507517
SNPdbers397507517
MSV3drs397507517
GWAS Ctlgrs397507517
Max Magnitude0
ClinVar
Risk rs397507517(C;C)
Alt rs397507517(C;C)
Reference rs397507517(A;A)
Significance Pathogenic
Disease Rasopathy Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112888301A>C
CLNSRC ClinVar
CLNACC RCV000033483.6, RCV000157021.2, RCV000212893.1,