Rs12044852

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs12044852
PheGenI	rs12044852
nextbio	rs12044852
hapmap	rs12044852
1000 genomes	rs12044852
hgdp	rs12044852
ensembl	rs12044852
gopubmed	rs12044852
geneview	rs12044852
scholar	rs12044852
google	rs12044852
pharmgkb	rs12044852
gwascentral	rs12044852
openSNP	rs12044852
23andMe	rs12044852
23andMe all	rs12044852
SNP Nexus
SNPshot	rs12044852
SNPdbe	rs12044852
MSV3d	rs12044852

Gene

CD58

Chromosome

1

Orientation

plus

GMAF

0.2381

Position

117087779

Reference

GRCh37 37.1/131

Max Magnitude

Geno	Mag	Summary
(A;A)		common
(A;C)		1.24x risk
(C;C)		>1.24x risk

?	(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

OMIM	126200
Desc
Variant
Related	also

[PMID 21362770] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts

[PMID 19237575] The role of the CD58 locus in multiple sclerosis.

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

[PMID 20368992] 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