Rs6498169

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Orientationplus
Geno Mag Summary
(A;A) 0 >1.14x risk
(A;G) 1.14x risk
(G;G) common
ReferenceGRCh38 38.1/141
Chromosome16
Position11155472
GeneCLEC16A
is asnp
is mentioned by
dbSNPrs6498169
Exacrs6498169
PheGenIrs6498169
nextbiors6498169
hapmaprs6498169
1000 genomesrs6498169
hgdprs6498169
ensemblrs6498169
gopubmedrs6498169
geneviewrs6498169
scholarrs6498169
googlers6498169
pharmgkbrs6498169
gwascentralrs6498169
openSNPrs6498169
23andMers6498169
23andMe allrs6498169
SNP Nexus

SNPshotrs6498169
SNPdbers6498169
MSV3drs6498169
GMAF0.3972
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs6498169 has been reported in a large study to be associated with multiple sclerosis.

The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 1.14 (CI 1.08-1.21). [PMID 17660530]

GWAS
SNP rs6498169
PubMedID [PMID 17660530]
Condition Multiple sclerosis
Gene KIAA0350
Risk Allele G
pValue 4.00E-006
OR 1.14
95% CI 1.08-1.21


[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility


[PMID 19734133OA-icon.png] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis

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



OMIM126200
Desc
Variant
Relatedalso
[PMID 18987646OA-icon.png] The expanding genetic overlap between multiple sclerosis and type I diabetes.


[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.


[PMID 19337309OA-icon.png] Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.


[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 20211854OA-icon.png] CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.


[PMID 20220768OA-icon.png] A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis.


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


[PMID 21179112] Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.


GET Evidence
rs6498169
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.679688
summary



[PMID 23151489] Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus


[PMID 22492128] Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease.