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rs397507541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507541(C;T)
Make rs397507541(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489068
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507541
ebirs397507541
HLIrs397507541
Exacrs397507541
Varsomers397507541
Maprs397507541
PheGenIrs397507541
hapmaprs397507541
1000 genomesrs397507541
hgdprs397507541
ensemblrs397507541
gopubmedrs397507541
geneviewrs397507541
scholarrs397507541
googlers397507541
pharmgkbrs397507541
gwascentralrs397507541
openSNPrs397507541
23andMers397507541
23andMe allrs397507541
SNP Nexus

SNPshotrs397507541
SNPdbers397507541
MSV3drs397507541
GWAS Ctlgrs397507541
Max Magnitude0
ClinVar
Risk rs397507541(T;T)
Alt rs397507541(T;T)
Reference rs397507541(C;C)
Significance Pathogenic
Disease Rasopathy LEOPARD syndrome 1
Variation info
Gene PTPN11
CLNDBN Rasopathy LEOPARD syndrome 1
Reversed 0
HGVS NC_000012.11:g.112926872C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033539.6, RCV000055885.1,