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rs397507549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507549(A;A)
Make rs397507549(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489104
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507549
ebirs397507549
HLIrs397507549
Exacrs397507549
Varsomers397507549
Maprs397507549
PheGenIrs397507549
hapmaprs397507549
1000 genomesrs397507549
hgdprs397507549
ensemblrs397507549
gopubmedrs397507549
geneviewrs397507549
scholarrs397507549
googlers397507549
pharmgkbrs397507549
gwascentralrs397507549
openSNPrs397507549
23andMers397507549
23andMe allrs397507549
SNP Nexus

SNPshotrs397507549
SNPdbers397507549
MSV3drs397507549
GWAS Ctlgrs397507549
Max Magnitude0
ClinVar
Risk rs397507549(A,G;A,G)
Alt rs397507549(A,G;A,G)
Reference rs397507549(C;C)
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.112926908C>A; NC_000012.11:g.112926908C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000033552.2, RCV000033553.6, RCV000055888.2, RCV000210041.1,