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rs397507548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507548(A;C)
Make rs397507548(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489093
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507548
ebirs397507548
HLIrs397507548
Exacrs397507548
Varsomers397507548
Maprs397507548
PheGenIrs397507548
hapmaprs397507548
1000 genomesrs397507548
hgdprs397507548
ensemblrs397507548
gopubmedrs397507548
geneviewrs397507548
scholarrs397507548
googlers397507548
pharmgkbrs397507548
gwascentralrs397507548
openSNPrs397507548
23andMers397507548
23andMe allrs397507548
SNP Nexus

SNPshotrs397507548
SNPdbers397507548
MSV3drs397507548
GWAS Ctlgrs397507548
Max Magnitude0
ClinVar
Risk rs397507548(C;C)
Alt rs397507548(C;C)
Reference rs397507548(A;A)
Significance Pathogenic
Disease Rasopathy LEOPARD syndrome 1 Noonan syndrome with multiple lentigines not provided
Variation info
Gene PTPN11
CLNDBN Rasopathy LEOPARD syndrome 1 Noonan syndrome with multiple lentigines not provided
Reversed 0
HGVS NC_000012.11:g.112926897A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033550.6, RCV000055887.1, RCV000154371.2, RCV000157683.1,