rs10492972
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | conflicting reports; possible slight increased risk for multiple sclerosis | |
| (C;T) | conflicting reports; possible slight increased risk for multiple sclerosis | |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 10293054 |
| Gene | KIF1B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10492972 |
| dbSNP (classic) | rs10492972 |
| ClinGen | rs10492972 |
| ebi | rs10492972 |
| HLI | rs10492972 |
| Exac | rs10492972 |
| Gnomad | rs10492972 |
| Varsome | rs10492972 |
| LitVar | rs10492972 |
| Map | rs10492972 |
| PheGenI | rs10492972 |
| Biobank | rs10492972 |
| 1000 genomes | rs10492972 |
| hgdp | rs10492972 |
| ensembl | rs10492972 |
| geneview | rs10492972 |
| scholar | rs10492972 |
| rs10492972 | |
| pharmgkb | rs10492972 |
| gwascentral | rs10492972 |
| openSNP | rs10492972 |
| 23andMe | rs10492972 |
| SNPshot | rs10492972 |
| SNPdbe | rs10492972 |
| MSV3d | rs10492972 |
| GWAS Ctlg | rs10492972 |
| GMAF | 0.3512 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs10492972 is a SNP in the KIF1B gene, which encodes a neuroprotein.
A genome-wide association study of 2,679 patients with multiple sclerosis (and 3,000+ controls) concluded that the rs10492972(C) allele is a risk allele for the disease, with an odds ratio of 1.35 (p = 2.5 x 10e-10). This is one of the few SNPs associated with multiple sclerosis that is not related to immune function. [PMID 18997785]
A 2011 report combining eight data sets of cases and controls and three independent data sets of the International Multiple Sclerosis Genetic Consortium excluded the rs10492972(C) allele as a major "risk" allele for MS with a high degree of confidence (p = 1.18 × 10e-4), i.e. they say it's not a risk allele.[PMID 21594895
]
[PMID 20067515] Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort
[PMID 21680216] Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: Case control study
[PMID 19361613] Genetic control of human brain transcript expression in Alzheimer disease.
[PMID 19525953] Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
[PMID 20502484] Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
[PMID 21304891] A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
[PMID 21424745] The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis.
