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rs267606706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606706(C;C)
Make rs267606706(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278181
GeneCBL
is asnp
is mentioned by
dbSNPrs267606706
dbSNP (classic)rs267606706
ClinGenrs267606706
ebirs267606706
HLIrs267606706
Exacrs267606706
Gnomadrs267606706
Varsomers267606706
LitVarrs267606706
Maprs267606706
PheGenIrs267606706
Biobankrs267606706
1000 genomesrs267606706
hgdprs267606706
ensemblrs267606706
geneviewrs267606706
scholarrs267606706
googlers267606706
pharmgkbrs267606706
gwascentralrs267606706
openSNPrs267606706
23andMers267606706
SNPshotrs267606706
SNPdbers267606706
MSV3drs267606706
GWAS Ctlgrs267606706
Max Magnitude0
ClinVar
Risk rs267606706(A;A) rs267606706(C;C)
Alt rs267606706(A;A) rs267606706(C;C)
Reference Rs267606706(T;T)
Significance Pathogenic
Disease Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Hematologic neoplasm not provided
Variation info
Gene CBL
CLNDBN Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Hematologic neoplasm not provided
Reversed 0
HGVS NC_000011.9:g.119148891T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014822.25, RCV000437548.1, RCV000441724.1,