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rs7177192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7177192(C;C)
Make rs7177192(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40606445
GeneCASC5
is asnp
is mentioned by
dbSNPrs7177192
ebirs7177192
HLIrs7177192
Exacrs7177192
Varsomers7177192
Maprs7177192
PheGenIrs7177192
hapmaprs7177192
1000 genomesrs7177192
hgdprs7177192
ensemblrs7177192
gopubmedrs7177192
geneviewrs7177192
scholarrs7177192
googlers7177192
pharmgkbrs7177192
gwascentralrs7177192
openSNPrs7177192
23andMers7177192
23andMe allrs7177192
SNP Nexus

SNPshotrs7177192
SNPdbers7177192
MSV3drs7177192
GWAS Ctlgrs7177192
GMAF0.3416
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene CASC5
allele C
frequency 0.888
sift TOLERATED
HuRef 1103645593422
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-R43T
aa_change Arg43Thr
aa_change_short R43T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.824021
summary



ClinVar
Risk rs7177192(C;C)
Alt rs7177192(C;C)
Reference rs7177192(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CASC5
CLNDBN not specified
Reversed 0
HGVS NC_000015.9:g.40898643G>C
CLNSRC ClinVar
CLNACC RCV000116558.1,