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Table 1 Investigated polymorphisms and their associated diseases.

From: Prevalence of common disease-associated variants in Asian Indians

Gene Name Nucleotide Change Protein Change NCBI Acc. # Phenotype Reference
AGT g.802C>T M235T rs699 Hypertension [100]
CYP3A5 g.6980G>A IVS4 rs776746 Hypertension [101]
GNB3 g.4423C>T S275S rs6489738 Hypertension [53]
ALOX5 (5'-GGGCGG-3')3–8 promoter none Athersclerosis [57]
ALOX5 g.20C>T T7T rs4987105 Athersclerosis  
ALOX5 g.8322G>A T90T rs2228064 Athersclerosis  
ALOX5 g.50778G>A E243K rs2228065 Athersclerosis  
CAPN10 g.4834T>C IVS3 rs2975760 Type-2 diabetes [102]
TCF7L2 g.98386G>T IVS4 rs12255372 Type-2 diabetes [103]
PTPN22 g.36677C>T R620W rs2476601 Type-1 diabetes [104]
Intragenic (5'-AC-3')13–30 none DG8S737 Prostate Cancer [58]
Intragenic C>A none rs1447295 Prostate Cancer [58]
CFH g.37989T>C Y402H rs1061170 Age-related macular degeneration [105-107]
LOC387715 g.205G>T A69S rs10490924 Age-related macular degeneration [108]
RET g.9349G>A IVS1 rs2435357 Hirschsprung disease [109]
TAS2R38 g.144G>C A49P rs713598 ability to taste PTC [59]
TAS2R38 g.784C>T A262V rs1726866 ability to taste PTC [59]
TAS2R38 g.885A>G I296V rs10246939 ability to taste PTC [59]
SLC24A5 g.13233G>A A111T rs1426654 Skin pigmentation [110]