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rs267606704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606704(A;C)
Make rs267606704(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278170
GeneCBL
is asnp
is mentioned by
dbSNPrs267606704
dbSNP (classic)rs267606704
ClinGenrs267606704
ebirs267606704
HLIrs267606704
Exacrs267606704
Gnomadrs267606704
Varsomers267606704
LitVarrs267606704
Maprs267606704
PheGenIrs267606704
Biobankrs267606704
1000 genomesrs267606704
hgdprs267606704
ensemblrs267606704
geneviewrs267606704
scholarrs267606704
googlers267606704
pharmgkbrs267606704
gwascentralrs267606704
openSNPrs267606704
23andMers267606704
SNPshotrs267606704
SNPdbers267606704
MSV3drs267606704
GWAS Ctlgrs267606704
Max Magnitude0
ClinVar
Risk rs267606704(C;C) rs267606704(G;G)
Alt rs267606704(C;C) rs267606704(G;G)
Reference Rs267606704(A;A)
Significance Pathogenic
Disease Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia not provided
Variation info
Gene CBL
CLNDBN Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia not provided
Reversed 0
HGVS NC_000011.9:g.119148880A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014818.22, RCV000033352.3,