Table 2 Genotype-phenotype associations in the case of 28 SNPs from the set of ‘known’ deleterious SNPs
From: Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry
SNP | Mapped gene [MIM] | Genotype | Phenotype | Pubmed ID |
|---|---|---|---|---|
rs1801133 [1:g.11856378G > A] [Ala263Val] | MTHFR [607093] | het | Homocysteine levels | 23824729 |
rs676210 [2:g.21231524G > A] [Pro2739Leu] | APOB [107730] | hom | triglyceride (TG) response to fenofibrate treatment for hypertriglyceridemia; LDL (oxidized), Lipid metabolism phenotypes | 23247145 |
rs6756629 [2:g.44065090G > A] [Arg50Cys] | ABCG5 [605459] | het | Cholesterol, total, LDL cholesterol | 19060911 |
rs16891982 [2:g.21231524G > A] [Pro2739Leu] | SLC45A2 [606202] | het | Skin pigmentation, Hair color, Eye color | 17999355 |
rs2043112 [5:g.38955796G > A] [Ser837Phe] | RICTOR [609022] | het | Obesity-related traits | 23251661 |
rs30187 [5:g.96124330 T > C] [Lys528Arg] | ERAP1 [606832] | het | Ankylosing spondylitis | 21743469 |
rs33980500 [6:g.111913262C > T] [Asp10Asn] | TRAF3IP2 [607043] | het | Psoriatic arthritis, Psoriasis | 20953186 |
rs7076156 [10:g.64415184A > G] [Thr62Ala] | ZNF365 [607818] | het | Crohn’s disease | 22412388 |
rs5006884 [11:g.5373251C > T] [Leu172Phe] | OR51B6 (Paralog of OR51E1 MIM:* [611267] | het | Fetal hemoglobin levels | 20018918 |
rs11042023 [11:g.8662516 T > C] [His322Arg] | TRIM66 [612000] | het | Obesity | 23563607 |
rs2306029 [11:g.46893108 T > C] [Ser1554Gly] | LRP4 [604270] | het | D-dimer levels | 21502573 |
rs11230563 [11:g.60776209C > T] [Arg225Trp] | CD6 [186720] | het | Inflammatory bowel disease | 23128233 |
rs6591182 [11:g.65349756 T > G] [Val538Gly] | EHBP1L1 | het | Non-alcoholic fatty liver disease histology (lobular) | 20708005 |
rs1042602 [11:g.88911696C > A] [Ser192Tyr] | TYR [606933] | het | Skin pigmentation, Freckles | 17999355 |
rs1126809 [11:g.89017961G > A] [Arg402Gln] | TYR [606933] | het | Tanning,Sunburns | 23548203 |
rs3213764 [12:g.14587301A > G] [Lys530Arg] | ATF7IP [613644] | het | Prostate-specific antigen levels | 23359319 |
rs4149056 [12:g.21331549 T > C] [Val174Ala] | SLCO1B1 [604843] | het | Sex hormone-binding globulin levels, Bilirubin levels, Response to statin therapy | 22829776 |
rs883079 [12:g.114793240C > T] [3' UTR variant] | TBX5 [601620] | het | Ventricular conduction | 21076409 |
rs17730281 [15:g.53907948G > A] [Leu829Phe] | WDR72 [613214] | het | Renal function-related traits (BUN) | 22797727 |
rs12968116 [18:g.55322502C > T] [Arg952Gln] | ATP8B1 [602397] | het | Liver enzyme levels (gamma-glutamyl transferase) | 22001757 |
rs2304256 [19:g.10475652C > A] [Val362Phe] | TYK2 [176941] | hom | Type 1 diabetes, Type 1 diabetes autoantibodies | 21829393 |
rs2108622 [19:g.15990431C > T] [Val433Met] | CYP4F2 [604426] | het | Acenocoumarol maintenance dosage, Vitamin E levels, Metabolite levels, Warfarin maintenance dose, Response to Vitamin E supplementation | 19578179 |
rs8100241 [19:g.17392894G > A] [Ala20Thr] | ANKLE1 | het | Breast cancer | 22976474 |
rs2363956 [19:g.17394124 T > G] [Leu173Trp] | ANKLE1 | het | Ovarian cancer | 20852633 |
rs1434579 [19:g.44932972C > T] [Gly662Arg] | ZNF229 [Paralog of ZNF224 MIM:* [194555] | het | Tuberculosis | 20694014 |
rs2303759 [19:g.49869051 T > G] [Met34Arg] | DKKL1 [605418] | het | Multiple sclerosis | 21833088 |
rs1799990 [20:g.4680251A > G] [Met129Val] | PRNP [176640] | hom | Long-term memory | 19081515 |
rs738409 [22:g.44324727C > G] [Ile148Met] | PNPLA3 [609567] | het | Liver enzyme levels (alanine transaminase),Nonalcoholic fatty liver disease | 22001757 |