Gene: C9orf72 ×
Source: GWASCAT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
A 0.870 GeneticVariation GWASCAT Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). 22959728

2013
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
A 0.870 GeneticVariation GWASCAT In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associated with ALS: rs3849942 (p=2·22×10(-6); odds ratio [OR] 1·39, 95% CI 1·21-1·59) and rs2814707 (p=3·32×10(-6); 1·38, 1·20-1·58). 20801717

2010
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
A 0.870 GeneticVariation GWASCAT The other was detected in a 232 kb block of linkage disequilibrium (rs3849942, p=9·11×10(-11)) in a region of chromosome 9p that was previously identified in linkage studies of families with ALS. 20801718

2010
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
G 0.870 GeneticVariation GWASCAT In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associated with ALS: rs3849942 (p=2·22×10(-6); odds ratio [OR] 1·39, 95% CI 1·21-1·59) and rs2814707 (p=3·32×10(-6); 1·38, 1·20-1·58). 20801717

2010
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
0.870 GeneticVariation GWASCAT Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. 19734901

2009
dbSNP: rs2814707
rs2814707
C9orf72 ; LOC107987057 ; LOC112268043
0.830 GeneticVariation GWASCAT Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. 19734901

2009
dbSNP: rs10122902
rs10122902
C9orf72
G 0.800 GeneticVariation GWASCAT Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. 20801717

2010
dbSNP: rs3849943
rs3849943
C9orf72 ; LOC107987057
0.700 GeneticVariation GWASCAT Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 29566793

2018
dbSNP: rs3849943
rs3849943
C9orf72 ; LOC107987057
0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. 27455348

2016
dbSNP: rs3849943
rs3849943
C9orf72 ; LOC107987057
C 0.700 GeneticVariation GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836

2014