Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1770
rs1770
Entrez Id: 3119;106480429
Gene Symbol: HLA-DQB1;HLA-DQB1-AS1
HLA-DQB1;HLA-DQB1-AS1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
G 0.710 GeneticVariation GWASCAT We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>). 31152121 2019
dbSNP: rs1770
rs1770
Entrez Id: 3119;106480429
Gene Symbol: HLA-DQB1;HLA-DQB1-AS1
HLA-DQB1;HLA-DQB1-AS1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.710 GeneticVariation BEFREE We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>). 31152121 2019
dbSNP: rs281862059
rs281862059
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Studies on IDDM5 have led to the discovery of a novel polymorphism 163 A-->G (M55V) in SUMO4 gene, which was found to be associated with T1D patients with Asian origin. 17448564 2007
dbSNP: rs9273643
rs9273643
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE It was also shown that there is an association between T668C mutation and low HLA related risk of IDDM development, the highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the frequency of T668C mutation was similar to the controls. 11064106 2000