TABLE 2

Allele and genotype frequencies of nonsynonymous SNPs in MARC1 and MARC2

SNP (Amino Acid Change)AlleleFrequencyadbSNP FrequencybGenotypeFrequencyadbSNP Frequencyb
%%%%
MARC1
 c.493A>GA30.428.3A/A7.110.0
 rs2642438G69.671.7A/G46.636.7
 (T165A)G/G46.253.3
 c.560T>AT98.6No dataT/T97.3No data
 rs17850677A0.4No dataT/A2.7No data
 (M187K)No dataA/A0.0No data
 c.736T>AT99.8100.0T/T99.7100.0
 rs3738178A0.20.0T/A0.30.0
 (C246S)A/A0.00.0
 c.739G>CG100.097.6G/G100.095.2
 rs72470601C0.02.4G/C0.04.8
 (D247H)C/C0.00.0
MARC2
 c.730G>AG99.599.6G/G99.199.1
 rs3795535A0.50.4G/A0.90.9
 (G244S)A/A0.00.0
 c.735T>GT100.086.1T/T100.0No data
 rs76664695G0.013.9T/G0.0No data
 (C245W)G/G0.0No data
  • a Frequency data determined in a cohort of 340 healthy Caucasians.

  • b Frequency data published in dbSNP build 133. Frequency data of rs2642438, rs17850677, rs3738178, rs72470601, and rs3795535 were provided by HapMap.