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rs121918470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918470(A;C)
Make rs121918470(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489105
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918470
ebirs121918470
HLIrs121918470
Exacrs121918470
Varsomers121918470
Maprs121918470
PheGenIrs121918470
hapmaprs121918470
1000 genomesrs121918470
hgdprs121918470
ensemblrs121918470
gopubmedrs121918470
geneviewrs121918470
scholarrs121918470
googlers121918470
pharmgkbrs121918470
gwascentralrs121918470
openSNPrs121918470
23andMers121918470
23andMe allrs121918470
SNP Nexus

SNPshotrs121918470
SNPdbers121918470
MSV3drs121918470
GWAS Ctlgrs121918470
Max Magnitude0
OMIM176876
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121918470(C,G;C,G)
Alt rs121918470(C,G;C,G)
Reference rs121918470(A;A)
Significance Pathogenic
Disease LEOPARD syndrome 1 Rasopathy not provided Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN LEOPARD syndrome 1 Rasopathy not provided Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112926909A>C; NC_000012.11:g.112926909A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014272.26, RCV000033554.3, RCV000210036.1, RCV000014273.3,