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rs8040502

From SNPedia

Orientationplus
Stabilizedplus
Make rs8040502(A;A)
Make rs8040502(A;G)
Make rs8040502(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40622992
GeneCASC5
is asnp
is mentioned by
dbSNPrs8040502
ebirs8040502
HLIrs8040502
Exacrs8040502
Varsomers8040502
Maprs8040502
PheGenIrs8040502
hapmaprs8040502
1000 genomesrs8040502
hgdprs8040502
ensemblrs8040502
gopubmedrs8040502
geneviewrs8040502
scholarrs8040502
googlers8040502
pharmgkbrs8040502
gwascentralrs8040502
openSNPrs8040502
23andMers8040502
23andMe allrs8040502
SNP Nexus

SNPshotrs8040502
SNPdbers8040502
MSV3drs8040502
GWAS Ctlgrs8040502
GMAF0.2994
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CASC5
allele G
frequency 0.892
sift
HuRef 1103645593460
Disease Association A chromosomal aberration involving CASC5 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with MLL/HRX. May give rise to a MLL-CASC5 fusion protein.



Neighborrs33931006
Distance359


GET Evidence
CASC5-R936G
aa_change Arg936Gly
aa_change_short R936G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary