rs2300747

Orientation

plus

Stabilized

plus

Make rs2300747(A;A)

Make rs2300747(A;G)

Make rs2300747(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

116561593

Gene	CD58, MIR548AC

is a	snp
is	mentioned by
dbSNP	rs2300747
dbSNP (classic)	rs2300747
ClinGen	rs2300747
ebi	rs2300747
HLI	rs2300747
Exac	rs2300747
Gnomad	rs2300747
Varsome	rs2300747
LitVar	rs2300747
Map	rs2300747
PheGenI	rs2300747
Biobank	rs2300747
1000 genomes	rs2300747
hgdp	rs2300747
ensembl	rs2300747
geneview	rs2300747
scholar	rs2300747
google	rs2300747
pharmgkb	rs2300747
gwascentral	rs2300747
openSNP	rs2300747
23andMe	rs2300747
SNPshot	rs2300747
SNPdbe	rs2300747
MSV3d	rs2300747
GWAS Ctlg	rs2300747

GMAF

0.3113

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 19237575] multiple sclerosis protective rs2300747(G)

GWAS snp
PMID	[PMID 19525953]
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]

OMIM	126200
Desc
Variant
Related	also

GWAS snp
PMID	[PMID 22190364]
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 20182566] The genetic aspects of multiple sclerosis.

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

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

[PMID 30128676] High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case-control study.

[PMID 31505972] Association of CD58 Polymorphisms and its Protein Expression with the Development and Prognosis of Autoimmune Thyroid Diseases.