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rs703842

From SNPedia

Orientationminus
Stabilizedminus
Make rs703842(C;C)
Make rs703842(C;T)
Make rs703842(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57768956
GeneCYP27B1, METTL1
is asnp
is mentioned by
dbSNPrs703842
ebirs703842
HLIrs703842
Exacrs703842
Varsomers703842
Maprs703842
PheGenIrs703842
hapmaprs703842
1000 genomesrs703842
hgdprs703842
ensemblrs703842
gopubmedrs703842
geneviewrs703842
scholarrs703842
googlers703842
pharmgkbrs703842
gwascentralrs703842
openSNPrs703842
23andMers703842
23andMe allrs703842
SNP Nexus

SNPshotrs703842
SNPdbers703842
MSV3drs703842
GWAS Ctlgrs703842
GMAF0.4187
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19525955]
Trait Multiple sclerosis
Title Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Risk Allele A
P-val 5E-11
Odds Ratio 1.23 [NR]
OMIM126200
Desc
Variant
Relatedalso
[PMID 21431378OA-icon.png] Genetic predictors of 25-hydroxyvitamin D levels and risk of multiple sclerosis


[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.


[PMID 18593774OA-icon.png] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.


[PMID 18689381OA-icon.png] Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis.


[PMID 19255064OA-icon.png] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.


[PMID 20018050OA-icon.png] Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data.


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


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


[PMID 20648053OA-icon.png] Confirmation of association between multiple sclerosis and CYP27B1.


[PMID 21358824OA-icon.png] Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.


GET Evidence
rs703842
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.31688
summary



[PMID 23543094OA-icon.png] Testing for associations between loci and environmental gradients using latent factor mixed models.