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rs397517076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517076(C;C)
Make rs397517076(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278165
GeneCBL
is asnp
is mentioned by
dbSNPrs397517076
ebirs397517076
HLIrs397517076
Exacrs397517076
Varsomers397517076
Maprs397517076
PheGenIrs397517076
hapmaprs397517076
1000 genomesrs397517076
hgdprs397517076
ensemblrs397517076
gopubmedrs397517076
geneviewrs397517076
scholarrs397517076
googlers397517076
pharmgkbrs397517076
gwascentralrs397517076
openSNPrs397517076
23andMers397517076
23andMe allrs397517076
SNP Nexus

SNPshotrs397517076
SNPdbers397517076
MSV3drs397517076
GWAS Ctlgrs397517076
Max Magnitude0
ClinVar
Risk rs397517076(C,T;C,T)
Alt rs397517076(C,T;C,T)
Reference rs397517076(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.119148875G>C; NC_000011.9:g.119148875G>T
CLNSRC ClinVar
CLNACC RCV000038346.2, RCV000157858.2, RCV000217231.1,