Have questions? Visit https://www.reddit.com/r/SNPedia

rs3817964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;T)
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome6
Position32400220
GeneBTNL2
is asnp
is mentioned by
dbSNPrs3817964
ebirs3817964
HLIrs3817964
Exacrs3817964
Varsomers3817964
Maprs3817964
PheGenIrs3817964
hapmaprs3817964
1000 genomesrs3817964
hgdprs3817964
ensemblrs3817964
gopubmedrs3817964
geneviewrs3817964
scholarrs3817964
googlers3817964
pharmgkbrs3817964
gwascentralrs3817964
openSNPrs3817964
23andMers3817964
23andMe allrs3817964
SNP Nexus

SNPshotrs3817964
SNPdbers3817964
MSV3drs3817964
GWAS Ctlgrs3817964
GMAF0.06382
Max Magnitude0
? (A;A) (A;T) (T;T) 28

This SNP, along with SNPs rs6910071 and rs660895, is a tag SNP for the HLA-DRB1*0401 allele.

The HLA-DRB1*0401 allele has been associated with higher risk for rheumatoid arthritis, and in particular, rheumatoid vasculitis. The association is seen particularly for individuals carrying two copies of, i.e. homozygous for, the allele. The reported odds ratio for rs3817964(T;T) homozygotes is 6.2 (CI: 1.01 - 37.9). [PMID 15529352]

The risk for rheumatoid arthritis may be higher for individuals carrying one copy (one "dose") of the HLA-DRB1*0401 allele, if they also carry a different HLA-DRB1 risk allele. In particular, *0401/*0404 individuals are reported to have an odds ratio for rheumatoid vasculitis of 4.1 (CI: 1.1 - 16.2), and *0401/*0101 individuals have an odds ratio of 4.0 (CI: 1.4 - 11.6). [PMID 15529352]