Table 1

Investigated polymorphisms and their associated diseases.

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]


Pemberton et al. BMC Genetics 2008 9:13   doi:10.1186/1471-2156-9-13

Open Data