rs6690993
A SNP on chromosome 1. Its most notable genotype is A;A: (no longer associated with ALS risk change)
- Gene
- None listed
- Location
- Chr 159,238,310 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 36%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableNot rated(no longer associated with ALS risk change)
- A;GNot ratedNo longer associated with ALS risk
- G;GNot ratedNo longer associated with ALS risk
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;A 41% A;G 43% G;G 17%
- European ancestry (Utah)A;A 54% A;G 36% G;G 10%
- Han Chinese (Beijing)A;A 56% A;G 37% G;G 7%
- Japanese (Tokyo)A;A 42% A;G 44% G;G 13%
- Yoruba (Nigeria)A;A 10% A;G 54% G;G 36%
Notes
From SNPedia
Show notes, about 180 words
rs6690993 is one of 6 SNPs found upstream of an (uncharacterized) gene known as FLJ10986 that were originally reported (in 2007) as being 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. * Note: this SNP is in strong linkage disequilibrium with rs6700125 (r 2 >0.8) However, subsequent studies (some of which are cited below) in both Caucasians and Asian populations have in general failed to replicate this finding. 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.
Source and license
Adapted from rs6690993 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.