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rs121918456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918456(A;G)
Make rs121918456(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112473023
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918456
ebirs121918456
HLIrs121918456
Exacrs121918456
Varsomers121918456
Maprs121918456
PheGenIrs121918456
hapmaprs121918456
1000 genomesrs121918456
hgdprs121918456
ensemblrs121918456
gopubmedrs121918456
geneviewrs121918456
scholarrs121918456
googlers121918456
pharmgkbrs121918456
gwascentralrs121918456
openSNPrs121918456
23andMers121918456
23andMe allrs121918456
SNP Nexus

SNPshotrs121918456
SNPdbers121918456
MSV3drs121918456
GWAS Ctlgrs121918456
Max Magnitude0
OMIM176876
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918456(C,G;C,G)
Alt rs121918456(C,G;C,G)
Reference rs121918456(A;A)
Significance Pathogenic
Disease LEOPARD syndrome 1 Noonan syndrome Rasopathy not provided
Variation info
Gene PTPN11
CLNDBN LEOPARD syndrome 1 Noonan syndrome Rasopathy not provided
Reversed 0
HGVS NC_000012.11:g.112910827A>C; NC_000012.11:g.112910827A>G
CLNSRC University Hospital of Geneva HGMD OMIM Allelic Variant
CLNACC RCV000055889.1, RCV000030620.1, RCV000033504.8, RCV000055890.6, RCV000077859.4,