From SNPedia
| Geno
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Mag
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Summary
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| (C;C)
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0.7x decreased risk for ALS
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| (C;T)
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1.2x increased risk for ALS
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| (T;T)
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1.76x increased risk for ALS
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| ? | (C;C) (C;T) (T;T) | 28 |
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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 1.38 for the rs6700125(T) allele (CI: 1.16-1.65, p=0.00032). The genotypic odds ratio presented were 1.76 (CI: 1.22-2.55) and 1.2 (CI: 0.83-1.73) for homozygotes and heterozygotes, respectively.[PMID 17671248]
- Note: this SNP is in strong linkage disequilibrium with rs6690993 (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.
[PMID 19922138] Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis
