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rs397507539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507539(A;A)
Make rs397507539(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489047
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507539
ebirs397507539
HLIrs397507539
Exacrs397507539
Varsomers397507539
Maprs397507539
PheGenIrs397507539
hapmaprs397507539
1000 genomesrs397507539
hgdprs397507539
ensemblrs397507539
gopubmedrs397507539
geneviewrs397507539
scholarrs397507539
googlers397507539
pharmgkbrs397507539
gwascentralrs397507539
openSNPrs397507539
23andMers397507539
23andMe allrs397507539
SNP Nexus

SNPshotrs397507539
SNPdbers397507539
MSV3drs397507539
GWAS Ctlgrs397507539
Max Magnitude0
ClinVar
Risk rs397507539(A,G,T;A,G,T)
Alt rs397507539(A,G,T;A,G,T)
Reference rs397507539(C;C)
Significance Pathogenic
Disease not provided Noonan syndrome Rasopathy
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome Rasopathy
Reversed 0
HGVS NC_000012.11:g.112926851C>A; NC_000012.11:g.112926851C>G; NC_000012.11:g.112926851C>T
CLNSRC ClinVar
CLNACC RCV000033535.4, RCV000208219.2, RCV000159056.2, RCV000033536.5, RCV000157010.2,