Rs12044852

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(A;A) common
(A;C) 1.24x risk
(C;C) >1.24x risk
ReferenceGRCh38 38.1/141
Chromosome1
Position116545157
GeneCD58
is asnp
is mentioned by
dbSNPrs12044852
Exacrs12044852
PheGenIrs12044852
nextbiors12044852
hapmaprs12044852
1000 genomesrs12044852
hgdprs12044852
ensemblrs12044852
gopubmedrs12044852
geneviewrs12044852
scholarrs12044852
googlers12044852
pharmgkbrs12044852
gwascentralrs12044852
openSNPrs12044852
23andMers12044852
23andMe allrs12044852
SNP Nexus

SNPshotrs12044852
SNPdbers12044852
MSV3drs12044852
GMAF0.2383
? (A;A) (A;C) (C;C) 28
rs12044852 has been reported in a large study to be associated with multiple sclerosis.

The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with this allele is 1.24 (CI 1.12-1.37). [PMID 17660530]


[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians


OMIM126200
Desc
Variant
Relatedalso
[PMID 21362770OA-icon.png] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts


[PMID 19237575OA-icon.png] The role of the CD58 locus in multiple sclerosis.


[PMID 20007504OA-icon.png] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.


[PMID 20368992OA-icon.png] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.


[PMID 22411505] Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.


GET Evidence
rs12044852
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.1875
summary



[PMID 24655566OA-icon.png] CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population