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rs11858113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11858113(C;C)
Make rs11858113(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40621979
GeneCASC5
is asnp
is mentioned by
dbSNPrs11858113
ebirs11858113
HLIrs11858113
Exacrs11858113
Varsomers11858113
Maprs11858113
PheGenIrs11858113
hapmaprs11858113
1000 genomesrs11858113
hgdprs11858113
ensemblrs11858113
gopubmedrs11858113
geneviewrs11858113
scholarrs11858113
googlers11858113
pharmgkbrs11858113
gwascentralrs11858113
openSNPrs11858113
23andMers11858113
23andMe allrs11858113
SNP Nexus

SNPshotrs11858113
SNPdbers11858113
MSV3drs11858113
GWAS Ctlgrs11858113
GMAF0.348
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene CASC5
allele C
frequency 0.425
sift
HuRef 1103645593455
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.



Neighborrs2412541
Distance337
Neighborrs33931006
Distance654


GET Evidence
CASC5-M598T
aa_change Met598Thr
aa_change_short M598T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs11858113(C;C)
Alt rs11858113(C;C)
Reference rs11858113(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CASC5
CLNDBN not specified
Reversed 0
HGVS NC_000015.9:g.40914177T>C
CLNSRC ClinVar
CLNACC RCV000116561.1,