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rs121918457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918457(C;T)
Make rs121918457(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112488466
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918457
ebirs121918457
HLIrs121918457
Exacrs121918457
Varsomers121918457
Maprs121918457
PheGenIrs121918457
hapmaprs121918457
1000 genomesrs121918457
hgdprs121918457
ensemblrs121918457
gopubmedrs121918457
geneviewrs121918457
scholarrs121918457
googlers121918457
pharmgkbrs121918457
gwascentralrs121918457
openSNPrs121918457
23andMers121918457
23andMe allrs121918457
SNP Nexus

SNPshotrs121918457
SNPdbers121918457
MSV3drs121918457
GWAS Ctlgrs121918457
Max Magnitude0
OMIM176876
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918457(T;T)
Alt rs121918457(T;T)
Reference rs121918457(C;C)
Significance Other
Disease Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines
Variation info
Gene PTPN11
CLNDBN Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines
Reversed 0
HGVS NC_000012.11:g.112926270C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000033533.8, RCV000055884.6, RCV000077851.5, RCV000106323.1, RCV000157014.1, RCV000208002.1,