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rs397507547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507547(A;G)
Make rs397507547(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489086
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507547
ebirs397507547
HLIrs397507547
Exacrs397507547
Varsomers397507547
Maprs397507547
PheGenIrs397507547
hapmaprs397507547
1000 genomesrs397507547
hgdprs397507547
ensemblrs397507547
gopubmedrs397507547
geneviewrs397507547
scholarrs397507547
googlers397507547
pharmgkbrs397507547
gwascentralrs397507547
openSNPrs397507547
23andMers397507547
23andMe allrs397507547
SNP Nexus

SNPshotrs397507547
SNPdbers397507547
MSV3drs397507547
GWAS Ctlgrs397507547
Max Magnitude0
ClinVar
Risk rs397507547(G;G)
Alt rs397507547(G;G)
Reference rs397507547(A;A)
Significance Pathogenic
Disease Rasopathy not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112926890A>G
CLNSRC HGMD
CLNACC RCV000033549.7, RCV000077853.5, RCV000156983.2,