Rs2300747

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Orientationplus
Make rs2300747(A;A)
Make rs2300747(A;G)
Make rs2300747(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position116561593
GeneCD58, MIR548AC
is asnp
is mentioned by
dbSNPrs2300747
Exacrs2300747
PheGenIrs2300747
nextbiors2300747
hapmaprs2300747
1000 genomesrs2300747
hgdprs2300747
ensemblrs2300747
gopubmedrs2300747
geneviewrs2300747
scholarrs2300747
googlers2300747
pharmgkbrs2300747
gwascentralrs2300747
openSNPrs2300747
23andMers2300747
23andMe allrs2300747
SNP Nexus

SNPshotrs2300747
SNPdbers2300747
MSV3drs2300747
GMAF0.3113
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 19237575OA-icon.png] multiple sclerosis protective rs2300747(G)
GWAS snp
PMID [PMID 19525953OA-icon.png]
Trait Multiple sclerosis
Title Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
Risk Allele A
P-val 3E-10
Odds Ratio 1.30 [1.14-1.47]
OMIM126200
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 22190364OA-icon.png]
Trait
Title Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
Risk Allele A
P-val 6E-9
Odds Ratio 1.3700 None


[PMID 20182566OA-icon.png] The genetic aspects of multiple sclerosis.


[PMID 20405052OA-icon.png] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.


GET Evidence
rs2300747
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.257812
summary



[PMID 24655566] CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population