Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2523608
rs2523608
HLA-B ; MIR6891
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 GeneticVariation BEFREE After stratification, hyperlipidemia remained a risk factor in women (OR = 4.735, 95% CI: 3.375⁻6.643) and men (OR = 3.640, 95% CI: 2.916⁻4.544) with rs2523608 GG genotype. 30934611

2019
dbSNP: rs2596487
rs2596487
HLA-B ; MIR6891
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.010 GeneticVariation BEFREE Two SNPs, rs2596487 (OR = 4.196, 95% CI = 2.086-8.441, P = 2.08 × 10<sup>-5</sup>) and rs2228391 (OR = 3.621, 95% CI = 1.596-8.217, P = 1.2 × 10<sup>-3</sup>), were independently associated with ATD-induced agranulocytosis. 28931918

2017
dbSNP: rs281864614
rs281864614
HLA-B ; MIR6891
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 GeneticVariation BEFREE A single amino acid difference (Asp116His), having a key role in a pathogenesis pathway, distinguishes HLA-B*27:05 and HLA-B*27:09 sub-types as associated and non-associated with ankylosing spondylitis, respectively. 27506766

2016
dbSNP: rs4997052
rs4997052
HLA-B ; MIR6891
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 GeneticVariation BEFREE The novel variant rs4997052 identified in our study can explain another approximately 0.66% of the phenotypic variances of NOA. 30502936

2019
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation BEFREE Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population. 29630754

2018
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 GeneticVariation BEFREE To investigate the distribution and association of the rs9266150 gene with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-control and case-only subjects in the 9906 controls and 8744 cases by MHC targeted sequencing stratified analysis in this study. 29630754

2018
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 GeneticVariation BEFREE Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population. 29630754

2018