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rs397507544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507544(C;T)
Make rs397507544(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489081
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507544
ebirs397507544
HLIrs397507544
Exacrs397507544
Varsomers397507544
Maprs397507544
PheGenIrs397507544
hapmaprs397507544
1000 genomesrs397507544
hgdprs397507544
ensemblrs397507544
gopubmedrs397507544
geneviewrs397507544
scholarrs397507544
googlers397507544
pharmgkbrs397507544
gwascentralrs397507544
openSNPrs397507544
23andMers397507544
23andMe allrs397507544
SNP Nexus

SNPshotrs397507544
SNPdbers397507544
MSV3drs397507544
GWAS Ctlgrs397507544
Max Magnitude0
ClinVar
Risk rs397507544(T;T)
Alt rs397507544(T;T)
Reference rs397507544(C;C)
Significance Pathogenic
Disease not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112926885C>T
CLNSRC ClinVar
CLNACC RCV000033544.5, RCV000037619.2,