Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGACCATATCA;AAGACCATATCA) 0 common in clinvar
(ACCATATCAAAG;ACCATATCAAAG) 0 common in clinvar
(I;I) 0 common genotype
Make rs397507490(-;-)
Make rs397507490(-;ACCATATCAAAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position119277825
GeneCBL
is asnp
is mentioned by
dbSNPrs397507490
dbSNP (classic)rs397507490
ClinGenrs397507490
ebirs397507490
HLIrs397507490
Exacrs397507490
Gnomadrs397507490
Varsomers397507490
LitVarrs397507490
Maprs397507490
PheGenIrs397507490
Biobankrs397507490
1000 genomesrs397507490
hgdprs397507490
ensemblrs397507490
geneviewrs397507490
scholarrs397507490
googlers397507490
pharmgkbrs397507490
gwascentralrs397507490
openSNPrs397507490
23andMers397507490
SNPshotrs397507490
SNPdbers397507490
MSV3drs397507490
GWAS Ctlgrs397507490
Max Magnitude0
ClinVar
Risk rs397507490(-;-)
Alt rs397507490(-;-)
Reference Rs397507490(AAGACCATATCA;AAGACCATATCA)
Significance Pathogenic
Disease Rasopathy
Variation info
Gene CBL
CLNDBN Rasopathy
Reversed 0
HGVS NC_000011.9:g.119148535_119148546delACCATATCAAAG
CLNSRC ClinVar
CLNACC RCV000033351.4,