Table 2. Frequency of the NFATC1 mutations according to the Exome Sequencing Project (ESP).
rsID | Alleles | EA Allele# | AA Allele# | All Allele# | MAF(%)(EA/AA/All) | Amino Acid Position | Polyphen Prediction |
rs148104245 | T/C | T = 0C = 8598 | T = 3C = 4403 | T = 3C = 13001 | 0.0/0.0681/0.0231 | LEU,PRO 66/7171 | ProbablyDamaging |
rs113736099 | C/A | C = 10A = 8590 | C = 12A = 4392 | C = 22A = 12982 | 0.1163/0.2725/0.1692 | LEU,ILE 701/717 | Unknown |
rs ID
dbSNP reference SNP identifier.
EA Allele Count
The observed allele counts for the listed alleles in European American population. (delimited by /).
AA Allele Count
The observed allele counts for the listed alleles in African American population. (delimited by /).
Allele Count
The observed allele counts for the listed alleles in all populations. (delimited by /).
MAF (%) (EA/AA/All):
the minor-allele frequency in percent listed in the order of European American (EA), African American(AA) and all populations (All). (delimited by /).