Variant: rs3849942 

    present in Gene: C9orf72;LOC107987057
    present in Chromosome: 9
    Position on Chromosome: 27543283
    Alleles of this Variant: T/A;C

rs3849942 in C9orf72;LOC107987057 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

rs3849942 in C9orf72;LOC107987057 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

rs3849942 in C9orf72;LOC107987057 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

rs3849942 in C9orf72;LOC107987057 gene and Amyotrophic Lateral Sclerosis PMID 20801718 2010 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.

PMID 22959728 2013 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)).

PMID 20801717 2010 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).

PMID 19734901 2009 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

PMID 23587638 2013 Genome-wide association testing was performed first using all samples, and then restricting the analysis to samples not carrying the mutation. rs3849942 and rs903603 were strongly associated with ALS when all samples were included (rs3849942, p = [3 × 2] × 10(-6), rank 7/442,057; rs903603, p = [7 × 6] × 10(-8), rank 2/442,057).

rs3849942 in C9orf72;LOC107987057 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

rs3849942 in C9orf72;LOC107987057 gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.