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rs267606708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606708(A;A)
Make rs267606708(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278541
GeneCBL
is asnp
is mentioned by
dbSNPrs267606708
dbSNP (classic)rs267606708
ClinGenrs267606708
ebirs267606708
HLIrs267606708
Exacrs267606708
Gnomadrs267606708
Varsomers267606708
LitVarrs267606708
Maprs267606708
PheGenIrs267606708
Biobankrs267606708
1000 genomesrs267606708
hgdprs267606708
ensemblrs267606708
geneviewrs267606708
scholarrs267606708
googlers267606708
pharmgkbrs267606708
gwascentralrs267606708
openSNPrs267606708
23andMers267606708
SNPshotrs267606708
SNPdbers267606708
MSV3drs267606708
GWAS Ctlgrs267606708
Max Magnitude0
ClinVar
Risk rs267606708(A;A)
Alt rs267606708(A;A)
Reference Rs267606708(G;G)
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.119149251G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014821.26, RCV000414703.1,