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rs12911738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs12911738(A;G)
Make rs12911738(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40611486
GeneCASC5
is asnp
is mentioned by
dbSNPrs12911738
ebirs12911738
HLIrs12911738
Exacrs12911738
Varsomers12911738
Maprs12911738
PheGenIrs12911738
hapmaprs12911738
1000 genomesrs12911738
hgdprs12911738
ensemblrs12911738
gopubmedrs12911738
geneviewrs12911738
scholarrs12911738
googlers12911738
pharmgkbrs12911738
gwascentralrs12911738
openSNPrs12911738
23andMers12911738
23andMe allrs12911738
SNP Nexus

SNPshotrs12911738
SNPdbers12911738
MSV3drs12911738
GWAS Ctlgrs12911738
GMAF0.2994
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CASC5
allele G
frequency 0.892
sift
HuRef 1103645593426
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.



GET Evidence
CASC5-T87A
aa_change Thr87Ala
aa_change_short T87A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.862907
summary



ClinVar
Risk rs12911738(G;G)
Alt rs12911738(G;G)
Reference rs12911738(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CASC5
CLNDBN not specified
Reversed 0
HGVS NC_000015.9:g.40903684A>G
CLNSRC ClinVar
CLNACC RCV000116567.2,