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rs397507546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507546(G;T)
Make rs397507546(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489084
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507546
dbSNP (classic)rs397507546
ClinGenrs397507546
ebirs397507546
HLIrs397507546
Exacrs397507546
Gnomadrs397507546
Varsomers397507546
LitVarrs397507546
Maprs397507546
PheGenIrs397507546
Biobankrs397507546
1000 genomesrs397507546
hgdprs397507546
ensemblrs397507546
geneviewrs397507546
scholarrs397507546
googlers397507546
pharmgkbrs397507546
gwascentralrs397507546
openSNPrs397507546
23andMers397507546
SNPshotrs397507546
SNPdbers397507546
MSV3drs397507546
GWAS Ctlgrs397507546
Max Magnitude0
ClinVar
Risk rs397507546(A;A) rs397507546(C;C) rs397507546(T;T)
Alt rs397507546(A;A) rs397507546(C;C) rs397507546(T;T)
Reference Rs397507546(G;G)
Significance Pathogenic
Disease not provided Rasopathy Squamous cell carcinoma of lung Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach
Variation info
Gene PTPN11
CLNDBN not provided Rasopathy Squamous cell carcinoma of lung Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach
Reversed 0
HGVS NC_000012.11:g.112926888G>A; NC_000012.11:g.112926888G>C; NC_000012.11:g.112926888G>T
CLNSRC ClinVar
CLNACC RCV000033548.5, RCV000149849.1, RCV000419381.1, RCV000429259.1, RCV000430281.1, RCV000439943.1, RCV000440091.1,