KLC1
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 3831 |
| PheGenI | 3831 |
| VariationViewer | 3831 |
| ClinVar | KLC1 |
| GeneCards | KLC1 |
| dbSNP | 3831 |
| Diseases | KLC1 |
| SADR | 3831 |
| HugeNav | 3831 |
| wikipedia | KLC1 |
| KLC1 | |
| gopubmed | KLC1 |
| EVS | KLC1 |
| HEFalMp | KLC1 |
| MyGene2 | KLC1 |
| 23andMe | KLC1 |
| # SNPs | 8 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs12432907 | 0 | 103,702,041 | |
| rs1799796 | 0 | 103,699,590 | |
| rs28903081 | 0 | 103,698,934 | |
| rs77381814 | 0 | 103,699,410 | |
| rs8007903 | 0 | 103,671,306 | |
| rs861537 | 0 | 103,700,738 | |
| rs861539 | 0 | 103,699,416 | |
| rs8702 | 0 | 103,686,015 |
Variants in the kinesin light-chain 1 KLC1 gene has potentially been implicated in a wide variety of conditions, including Alzheimer's disease, multiple sclerosis, cataracts, and leukoaraiosis.
- rs8702: observed in connection to both multiple sclerosis and Alzheimer's disease
- A study of 100 patients with Alzheimer's disease found an association with the C allele of the KCL1 intron 13 SNP, G56836, with odds ratio = 1.73, CI: 1.12-2.67, p = 0.012. No synergistic effects were found between the ApoE4 allele and KCL1 gene polymorphisms.[PMID 15364413]
SNPs observed in connection to leukoaraiosis (LA) include:
- A SNP known as the G56836C variant, located in intron 13. An association analysis performed in 229 patients with LA found that the 56836(C;C) variant increased the risk of LA 7.76-fold in hypertensive smokers as compared with those not carrying this variant.[PMID 17917076, PMID 17977659]
