Rs10492972

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is asnp
is mentioned by
dbSNPrs10492972
hapmaprs10492972
hgdprs10492972
ensemblrs10492972
gopubmedrs10492972
scholarrs10492972
googlers10492972
pharmgkbrs10492972
hgvbaseg2prs10492972
medrefsnprs10492972
23andMers10492972
SNP Nexus

GeneKIF1B
Chromosome1
Orientationplus
Position10275698
GenotypeEffect
rs10492972(C;C)1.35x increased risk for multiple sclerosis
rs10492972(C;T)1.35x increased risk for multiple sclerosis
rs10492972(T;T)normal


Genotypes Magnitude Summary
Rs10492972(C;C) 1.35x increased risk for multiple sclerosis
Rs10492972(C;T) 1.35x increased risk for multiple sclerosis
Rs10492972(T;T) normal
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]

? (C;C) (C;T) (T;T)
Related to MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4 according to omim 612596. See also


PharmGKBPA162360096
Name
AnnotationIn a GWAS this rs10492972[C] variant located in the KIF1B gene was associated with multiple sclerosis.
GeneKIF1B
Featue
EvidencePubMed ID:18997785
Drugs
DiseasesMultiple Sclerosis
Curation LevelCurated

[PMID 20067515] Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort