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rs397507542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507542(G;T)
Make rs397507542(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489069
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507542
ebirs397507542
HLIrs397507542
Exacrs397507542
Varsomers397507542
Maprs397507542
PheGenIrs397507542
hapmaprs397507542
1000 genomesrs397507542
hgdprs397507542
ensemblrs397507542
gopubmedrs397507542
geneviewrs397507542
scholarrs397507542
googlers397507542
pharmgkbrs397507542
gwascentralrs397507542
openSNPrs397507542
23andMers397507542
23andMe allrs397507542
SNP Nexus

SNPshotrs397507542
SNPdbers397507542
MSV3drs397507542
GWAS Ctlgrs397507542
Max Magnitude0
ClinVar
Risk rs397507542(T;T)
Alt rs397507542(T;T)
Reference rs397507542(G;G)
Significance Pathogenic
Disease Rasopathy LEOPARD syndrome 1 not provided
Variation info
Gene PTPN11
CLNDBN Rasopathy LEOPARD syndrome 1 not provided
Reversed 0
HGVS NC_000012.11:g.112926873G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033540.5, RCV000055886.1, RCV000212896.1,