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rs2412541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 0
Make rs2412541(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40621642
GeneCASC5
is asnp
is mentioned by
dbSNPrs2412541
ebirs2412541
HLIrs2412541
Exacrs2412541
Varsomers2412541
Maprs2412541
PheGenIrs2412541
hapmaprs2412541
1000 genomesrs2412541
hgdprs2412541
ensemblrs2412541
gopubmedrs2412541
geneviewrs2412541
scholarrs2412541
googlers2412541
pharmgkbrs2412541
gwascentralrs2412541
openSNPrs2412541
23andMers2412541
23andMe allrs2412541
SNP Nexus

SNPshotrs2412541
SNPdbers2412541
MSV3drs2412541
GWAS Ctlgrs2412541
GMAF0.3416
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene CASC5
allele T
frequency 0.892
sift TOLERATED
HuRef 1103645593459
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.



Neighborrs11858113
Distance337


GET Evidence
CASC5-A486S
aa_change Ala486Ser
aa_change_short A486S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2412541(T;T)
Alt rs2412541(T;T)
Reference rs2412541(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CASC5
CLNDBN not specified
Reversed 0
HGVS NC_000015.9:g.40913840G>T
CLNSRC ClinVar
CLNACC RCV000116560.1,