Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918465(A;T)
Make rs121918465(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450407
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918465
dbSNP (classic)rs121918465
ClinGenrs121918465
ebirs121918465
HLIrs121918465
Exacrs121918465
Gnomadrs121918465
Varsomers121918465
LitVarrs121918465
Maprs121918465
PheGenIrs121918465
Biobankrs121918465
1000 genomesrs121918465
hgdprs121918465
ensemblrs121918465
geneviewrs121918465
scholarrs121918465
googlers121918465
pharmgkbrs121918465
gwascentralrs121918465
openSNPrs121918465
23andMers121918465
SNPshotrs121918465
SNPdbers121918465
MSV3drs121918465
GWAS Ctlgrs121918465
Max Magnitude0
OMIM176876
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918465(C;C) rs121918465(G;G) rs121918465(T;T)
Alt rs121918465(C;C) rs121918465(G;G) rs121918465(T;T)
Reference Rs121918465(A;A)
Significance Pathogenic
Disease Juvenile myelomonocytic leukemia not provided Astrocytoma Neuroblastoma Colorectal Neoplasms Squamous cell carcinoma of lung Multiple myeloma
Variation info
Gene PTPN11
CLNDBN Juvenile myelomonocytic leukemia not provided Astrocytoma Neuroblastoma Colorectal Neoplasms Squamous cell carcinoma of lung Multiple myeloma
Reversed 0
HGVS NC_000012.11:g.112888211A>C; NC_000012.11:g.112888211A>G; NC_000012.11:g.112888211A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014267.5, RCV000033477.5, RCV000424761.1, RCV000424995.1, RCV000432192.1, RCV000443046.1, RCV000444034.1, RCV000014266.8, RCV000159046.2, RCV000419574.1, RCV000420699.1, RCV000427060.1, RCV000437713.1, RCV000437931.1, RCV000014265.5,