Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs113710653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113710653(C;T)
Make rs113710653(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position46161921
GeneSPATC1L
is asnp
is mentioned by
dbSNPrs113710653
dbSNP (old)rs113710653
ClinGenrs113710653
ebirs113710653
HLIrs113710653
Exacrs113710653
Gnomadrs113710653
Varsomers113710653
Maprs113710653
PheGenIrs113710653
Biobankrs113710653
1000 genomesrs113710653
hgdprs113710653
ensemblrs113710653
gopubmedrs113710653
geneviewrs113710653
scholarrs113710653
googlers113710653
pharmgkbrs113710653
gwascentralrs113710653
openSNPrs113710653
23andMers113710653
23andMe allrs113710653
SNPshotrs113710653
SNPdbers113710653
MSV3drs113710653
GWAS Ctlgrs113710653
Max Magnitude0

A 2017 publication reported that rs113710653 [C/T (E231K)] of the spermatogenesis- and centriole associated 1-like gene (SPATC1L) was significantly associated with true aortic aneurysm (dominant model; P=0.0002; odds ratio, 5.32, P<2.78x10e-4) in their study of Japanese individuals. However, the frequency of the minor allele is higher than might be expected for such an impactful allele. [PMID 28339009OA-icon.png]

ClinVar
Risk rs113710653(T;T)
Alt rs113710653(T;T)
Reference Rs113710653(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SPATC1L
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47581835C>T
CLNSRC
CLNACC RCV000455748.1,