From SNPedia
rs6690993 is one of 6 SNPs found upstream of an (uncharacterized) gene known as FLJ10986 that have been found to be overrepresented in patients with sporadic amyotrophic lateral sclerosis (
ALS).
A genome-wide association study of 1,152 ALS patients determined an allelic odds ratio of 1.35 for the rs6690993(G) allele (CI: 1.13-1.62, p=3x10-4). This association was seen only in Caucasians upon replication and not in non-Caucasians. The genotypic odds ratio presented were 1.69 (CI: 1.16-2.47) and 1.2 (CI: 0.81-1.71) for homozygotes and heterozygotes, respectively.[PMID 17671248]
- Note: this SNP is in strong linkage disequilibrium with rs6700125 (r2>0.8)
[PMID 19177248] A study involving a large case-control series from the Netherlands, Belgium, Sweden and Ireland (total: 1883 sporadic ALS patients and 2063 controls) found no significant association between sporadic ALS and the six previously reported associated SNPs, including this one.
| ? | (A;A) (A;G) (G;G) |
 |
Related to AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
according to
omim 105400. See
also
[PMID 19922138] Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis