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rs121918459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918459(A;G)
Make rs121918459(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450368
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918459
ebirs121918459
HLIrs121918459
Exacrs121918459
Varsomers121918459
Maprs121918459
PheGenIrs121918459
hapmaprs121918459
1000 genomesrs121918459
hgdprs121918459
ensemblrs121918459
gopubmedrs121918459
geneviewrs121918459
scholarrs121918459
googlers121918459
pharmgkbrs121918459
gwascentralrs121918459
openSNPrs121918459
23andMers121918459
23andMe allrs121918459
SNP Nexus

SNPshotrs121918459
SNPdbers121918459
MSV3drs121918459
GWAS Ctlgrs121918459
Max Magnitude0
OMIM176876
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918459(G;G)
Alt rs121918459(G;G)
Reference rs121918459(A;A)
Significance Pathogenic
Disease Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888172A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014261.25, RCV000033468.7, RCV000077857.5, RCV000157000.3,