Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507520(G;T)
Make rs397507520(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112453279
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507520
ebirs397507520
HLIrs397507520
Exacrs397507520
Varsomers397507520
Maprs397507520
PheGenIrs397507520
hapmaprs397507520
1000 genomesrs397507520
hgdprs397507520
ensemblrs397507520
gopubmedrs397507520
geneviewrs397507520
scholarrs397507520
googlers397507520
pharmgkbrs397507520
gwascentralrs397507520
openSNPrs397507520
23andMers397507520
23andMe allrs397507520
SNP Nexus

SNPshotrs397507520
SNPdbers397507520
MSV3drs397507520
GWAS Ctlgrs397507520
Max Magnitude0
ClinVar
Risk rs397507520(C,T;C,T)
Alt rs397507520(C,T;C,T)
Reference rs397507520(G;G)
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.112891083G>C; NC_000012.11:g.112891083G>T
CLNSRC HGMD
CLNACC RCV000033491.9, RCV000077858.5, RCV000157007.1, RCV000033490.5, RCV000212894.1,