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rs387906664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906664(C;C)
Make rs387906664(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119278220
GeneCBL
is asnp
is mentioned by
dbSNPrs387906664
ebirs387906664
HLIrs387906664
Exacrs387906664
Varsomers387906664
Maprs387906664
PheGenIrs387906664
hapmaprs387906664
1000 genomesrs387906664
hgdprs387906664
ensemblrs387906664
gopubmedrs387906664
geneviewrs387906664
scholarrs387906664
googlers387906664
pharmgkbrs387906664
gwascentralrs387906664
openSNPrs387906664
23andMers387906664
23andMe allrs387906664
SNP Nexus

SNPshotrs387906664
SNPdbers387906664
MSV3drs387906664
GWAS Ctlgrs387906664
Max Magnitude0
ClinVar
Risk rs387906664(C,G;C,G)
Alt rs387906664(C,G;C,G)
Reference rs387906664(T;T)
Significance Pathogenic
Disease Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Rasopathy
Variation info
Gene CBL
CLNDBN Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Rasopathy
Reversed 0
HGVS NC_000011.9:g.119148930T>C; NC_000011.9:g.119148930T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022698.21, RCV000157859.1,