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rs121918469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918469(C;C)
Make rs121918469(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112488454
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918469
ebirs121918469
HLIrs121918469
Exacrs121918469
Varsomers121918469
Maprs121918469
PheGenIrs121918469
hapmaprs121918469
1000 genomesrs121918469
hgdprs121918469
ensemblrs121918469
gopubmedrs121918469
geneviewrs121918469
scholarrs121918469
googlers121918469
pharmgkbrs121918469
gwascentralrs121918469
openSNPrs121918469
23andMers121918469
23andMe allrs121918469
SNP Nexus

SNPshotrs121918469
SNPdbers121918469
MSV3drs121918469
GWAS Ctlgrs121918469
Max Magnitude0
OMIM176876
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918469(C;C)
Alt rs121918469(C;C)
Reference rs121918469(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.112926258G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000033531.5, RCV000055883.7, RCV000077850.5,