rs10492972

A SNP in the KIF1B gene on chromosome 1. Its most notable genotype is C;C: conflicting reports; possible slight increased risk for multiple sclerosis

Gene
KIF1B
Location
Chr 110,293,054 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
35%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedconflicting reports; possible slight increased risk for multiple sclerosisTypical · 0.012% of people
  2. C;TNot ratedconflicting reports; possible slight increased risk for multiple sclerosisTypical · 0.042% of people
  3. T;TNot ratednormalTypical · 0.045% of people

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 12% C;T 42% T;T 45%
  • European ancestry (Utah)C;C 12% C;T 44% T;T 44%
  • Han Chinese (Beijing)C;C 11% C;T 49% T;T 40%
  • Japanese (Tokyo)C;C 18% C;T 36% T;T 46%
  • Yoruba (Nigeria)C;C 11% C;T 45% T;T 44%
  • African ancestry (Southwest US)C;C 7% C;T 35% T;T 58%
  • Chinese (Denver)C;C 10% C;T 54% T;T 36%
  • Gujarati IndianC;C 10% C;T 38% T;T 53%
  • Luhya (Kenya)C;C 16% C;T 38% T;T 46%
  • Mexican ancestry (Los Angeles)C;C 17% C;T 47% T;T 36%
  • Maasai (Kenya)C;C 10% C;T 42% T;T 48%
  • TuscanC;C 16% C;T 38% T;T 46%

Conditions, medicines and genes

Other KIF1B SNPs

All KIF1B SNPs

Notes

From SNPedia

Show notes, about 200 words

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. 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. Genetic control of human brain transcript expression in Alzheimer disease. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis.

Source and license

Adapted from rs10492972 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.