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rs397517077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs397517077(-;-)
Make rs397517077(-;AAAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278162
GeneCBL
is asnp
is mentioned by
dbSNPrs397517077
ebirs397517077
HLIrs397517077
Exacrs397517077
Varsomers397517077
Maprs397517077
PheGenIrs397517077
hapmaprs397517077
1000 genomesrs397517077
hgdprs397517077
ensemblrs397517077
gopubmedrs397517077
geneviewrs397517077
scholarrs397517077
googlers397517077
pharmgkbrs397517077
gwascentralrs397517077
openSNPrs397517077
23andMers397517077
23andMe allrs397517077
SNP Nexus

SNPshotrs397517077
SNPdbers397517077
MSV3drs397517077
GWAS Ctlgrs397517077
Max Magnitude0
ClinVar
Risk rs397517077(;)
Alt rs397517077(;)
Reference rs397517077(AAAG;AAAG)
Significance Pathogenic
Disease Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Rasopathy
Variation info
Gene CBL
CLNDBN Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Rasopathy
Reversed 0
HGVS NC_000011.9:g.119148872_119148875delAAAG
CLNSRC ClinVar
CLNACC RCV000038347.2, RCV000157871.1,