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rs397507509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507509(C;C)
Make rs397507509(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450359
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507509
ebirs397507509
HLIrs397507509
Exacrs397507509
Varsomers397507509
Maprs397507509
PheGenIrs397507509
hapmaprs397507509
1000 genomesrs397507509
hgdprs397507509
ensemblrs397507509
gopubmedrs397507509
geneviewrs397507509
scholarrs397507509
googlers397507509
pharmgkbrs397507509
gwascentralrs397507509
openSNPrs397507509
23andMers397507509
23andMe allrs397507509
SNP Nexus

SNPshotrs397507509
SNPdbers397507509
MSV3drs397507509
GWAS Ctlgrs397507509
Max Magnitude0
ClinVar
Risk rs397507509(C,T;C,T)
Alt rs397507509(C,T;C,T)
Reference rs397507509(G;G)
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.112888163G>C; NC_000012.11:g.112888163G>T
CLNSRC ClinVar
CLNACC RCV000033461.2, RCV000037631.3, RCV000049228.1,