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rs397507527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507527(G;T)
Make rs397507527(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112472989
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507527
ebirs397507527
HLIrs397507527
Exacrs397507527
Varsomers397507527
Maprs397507527
PheGenIrs397507527
hapmaprs397507527
1000 genomesrs397507527
hgdprs397507527
ensemblrs397507527
gopubmedrs397507527
geneviewrs397507527
scholarrs397507527
googlers397507527
pharmgkbrs397507527
gwascentralrs397507527
openSNPrs397507527
23andMers397507527
23andMe allrs397507527
SNP Nexus

SNPshotrs397507527
SNPdbers397507527
MSV3drs397507527
GWAS Ctlgrs397507527
Max Magnitude0
ClinVar
Risk rs397507527(A,T;A,T)
Alt rs397507527(A,T;A,T)
Reference rs397507527(G;G)
Significance Pathogenic
Disease Noonan syndrome Rasopathy not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome Rasopathy not provided
Reversed 0
HGVS NC_000012.11:g.112910793G>A; NC_000012.11:g.112910793G>T
CLNSRC ClinVar
CLNACC RCV000037659.3, RCV000159050.1, RCV000033502.5, RCV000037660.2,