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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
  1. Only in the case of these 28 (of the identified 2123 ‘known’ deleterious SNPs), the genotype-phenotype associations are known in NHGRI GWAS Catalog.