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 | Â |
ALOX5 | g.8322G>A | T90T | rs2228064 | Athersclerosis | Â |
ALOX5 | g.50778G>A | E243K | rs2228065 | Athersclerosis | Â |
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] |