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rs6690993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) (no longer associated with ALS risk change)
(A;G) No longer associated with ALS risk
(G;G) No longer associated with ALS risk
ReferenceGRCh38 38.1/141
Chromosome1
Position59238310
is asnp
is mentioned by
dbSNPrs6690993
dbSNP (classic)rs6690993
ClinGenrs6690993
ebirs6690993
HLIrs6690993
Exacrs6690993
Gnomadrs6690993
Varsomers6690993
LitVarrs6690993
Maprs6690993
PheGenIrs6690993
Biobankrs6690993
1000 genomesrs6690993
hgdprs6690993
ensemblrs6690993
geneviewrs6690993
scholarrs6690993
googlers6690993
pharmgkbrs6690993
gwascentralrs6690993
openSNPrs6690993
23andMers6690993
23andMe allrs6690993
SNPshotrs6690993
SNPdbers6690993
MSV3drs6690993
GWAS Ctlgrs6690993
GMAF0.3627
Max Magnitude0
? (A;A) (A;G) (G;G) 28


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.[PMID 17671248]

  • Note: this SNP is in strong linkage disequilibrium with rs6700125 (r2>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.

[PMID 19922138] 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.

OMIM611370
DescFLJ10986
Variant
Relatedalso


[PMID 22795786] No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population


[PMID 24439956] The single-nucleotide polymorphism rs6690993 in FGGY is not associated with amyotrophic lateral sclerosis in a large Chinese cohort