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rs10492972

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position10293054
GeneKIF1B
is asnp
is mentioned by
dbSNPrs10492972
ebirs10492972
HLIrs10492972
Exacrs10492972
Varsomers10492972
Maprs10492972
PheGenIrs10492972
hapmaprs10492972
1000 genomesrs10492972
hgdprs10492972
ensemblrs10492972
gopubmedrs10492972
geneviewrs10492972
scholarrs10492972
googlers10492972
pharmgkbrs10492972
gwascentralrs10492972
openSNPrs10492972
23andMers10492972
23andMe allrs10492972
SNP Nexus

SNPshotrs10492972
SNPdbers10492972
MSV3drs10492972
GWAS Ctlgrs10492972
GMAF0.3512
Max Magnitude
? (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 21594895OA-icon.png]

OMIM612596
DescMULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4
Variant
Relatedalso


[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 19361613OA-icon.png] Genetic control of human brain transcript expression in Alzheimer disease.

[PMID 19525953OA-icon.png] Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

[PMID 20502484OA-icon.png] Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.

[PMID 21304891OA-icon.png] 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.


GET Evidence
rs10492972
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.333333
summary