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rs121918464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918464(A;A)
Make rs121918464(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450406
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918464
ebirs121918464
HLIrs121918464
Exacrs121918464
Varsomers121918464
Maprs121918464
PheGenIrs121918464
hapmaprs121918464
1000 genomesrs121918464
hgdprs121918464
ensemblrs121918464
gopubmedrs121918464
geneviewrs121918464
scholarrs121918464
googlers121918464
pharmgkbrs121918464
gwascentralrs121918464
openSNPrs121918464
23andMers121918464
23andMe allrs121918464
SNP Nexus

SNPshotrs121918464
SNPdbers121918464
MSV3drs121918464
GWAS Ctlgrs121918464
Max Magnitude0
OMIM176876
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918464(A,C;A,C)
Alt rs121918464(A,C;A,C)
Reference rs121918464(G;G)
Significance Pathogenic
Disease Juvenile myelomonocytic leukemia Rasopathy Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Juvenile myelomonocytic leukemia Rasopathy Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112888210G>A; NC_000012.11:g.112888210G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014264.5, RCV000033476.6, RCV000156974.1, RCV000212892.1, RCV000159045.1,