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rs267606705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606705(A;G)
Make rs267606705(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278214
GeneCBL
is asnp
is mentioned by
dbSNPrs267606705
dbSNP (classic)rs267606705
ClinGenrs267606705
ebirs267606705
HLIrs267606705
Exacrs267606705
Gnomadrs267606705
Varsomers267606705
LitVarrs267606705
Maprs267606705
PheGenIrs267606705
Biobankrs267606705
1000 genomesrs267606705
hgdprs267606705
ensemblrs267606705
geneviewrs267606705
scholarrs267606705
googlers267606705
pharmgkbrs267606705
gwascentralrs267606705
openSNPrs267606705
23andMers267606705
SNPshotrs267606705
SNPdbers267606705
MSV3drs267606705
GWAS Ctlgrs267606705
Max Magnitude0
ClinVar
Risk rs267606705(G;G)
Alt rs267606705(G;G)
Reference Rs267606705(A;A)
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.119148924A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014819.26,