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

rs727504504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504504(A;A)
Make rs727504504(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119278169
GeneCBL
is asnp
is mentioned by
dbSNPrs727504504
dbSNP (classic)rs727504504
ClinGenrs727504504
ebirs727504504
HLIrs727504504
Exacrs727504504
Gnomadrs727504504
Varsomers727504504
LitVarrs727504504
Maprs727504504
PheGenIrs727504504
Biobankrs727504504
1000 genomesrs727504504
hgdprs727504504
ensemblrs727504504
geneviewrs727504504
scholarrs727504504
googlers727504504
pharmgkbrs727504504
gwascentralrs727504504
openSNPrs727504504
23andMers727504504
SNPshotrs727504504
SNPdbers727504504
MSV3drs727504504
GWAS Ctlgrs727504504
Max Magnitude0
ClinVar
Risk rs727504504(A;A)
Alt rs727504504(A;A)
Reference Rs727504504(C;C)
Significance Probable-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.119148879C>A
CLNSRC
CLNACC RCV000155642.2,