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rs267606707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606707(G;T)
Make rs267606707(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278238
GeneCBL
is asnp
is mentioned by
dbSNPrs267606707
dbSNP (classic)rs267606707
ClinGenrs267606707
ebirs267606707
HLIrs267606707
Exacrs267606707
Gnomadrs267606707
Varsomers267606707
LitVarrs267606707
Maprs267606707
PheGenIrs267606707
Biobankrs267606707
1000 genomesrs267606707
hgdprs267606707
ensemblrs267606707
geneviewrs267606707
scholarrs267606707
googlers267606707
pharmgkbrs267606707
gwascentralrs267606707
openSNPrs267606707
23andMers267606707
SNPshotrs267606707
SNPdbers267606707
MSV3drs267606707
GWAS Ctlgrs267606707
Max Magnitude0
ClinVar
Risk rs267606707(T;T)
Alt rs267606707(T;T)
Reference Rs267606707(G;G)
Significance Pathogenic
Disease Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Variation info
Gene CBL
CLNDBN Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Reversed 0
HGVS NC_000011.9:g.119148948G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014820.25,