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. 2015 Mar 30;100(6):E900–E909. doi: 10.1210/jc.2014-4167

Table 2.

Allele Frequency (Minor Allele) of Sequence Variations in ARMC5 in Patients With PA and in Controls From the 1000 Genomes Project (Using All Population as a Base) and in African American Controls in the ESP6500

Protein Change SNP ID Prediction All Patients With PA vs ALL in the 1000 Genomes
 AA Patients With PA vs AAs in ESP6500
ARMC5 SNPs in Patients (n = 56) ARMC5 SNPs in 1000 Genomes Sample (n = 1092) χ2c P Valued ARMC5 SNPs in AA Patients (n = 22)f ARMC5 SNPs in AA ESPS6500 Sample (n = 2203)e χ2 P Value
p.F14Y rs151069962 Benign 3 63 0.03 NS 2 48 2.11 NS
p.L156F rs114930262 Damaging 4 17 6.41 .016 4 81 8.84 .009
p.I170V rs35923277 Benign 4 54 0.18 NS 0 36 0.37 NS
Splice rs9921490 Benign 4 82 0.02 NS 4 504 0.07 NS
p.G323A rs35461188 Benign 1 3 0.50 NS 0 0 N/A N/A
Splice rs200655247 Damaging 1 0 4.39 .049 1 4 4.16 .049
p.P507L rs142376949 Benign 2 19 0.24 NS 0 20 0.20 NS
p.T643M rs370836071 Damaging 1 0 4.39 .049 1 0 24.55 .010
p.G798A rs115611533 Benign 1 17 0.17 NS 1 94 0.00 NS
p.P826Ha Novel Damaging 1 0 4.39 .049 1 0 24.55 .010
p.R898Wa Faucz et alb Damaging 1 0 4.39 .049 1 0 24.55 .010
Splice rs200289596 Benign 1 0 4.39 .049 0 1 0.01 NS

Abbreviations: N/A, not available; NS, nonsignificant; ALL, all individuals from 1000 Genomes database are being considered; AA, African Americans.

a

Variation newly identified in PA patients, comparing with the database.

b

Variation previously described in patients with macronodular adrenal hyperplasia, but still not present in the National Center for Biotechnology Information Genome database (26).

c

χ2 is calculated after Yates correction for continuity (Yates correction was applied for all calculations having a number <10 in any cell of the contingency table).

d

The Fisher's exact test was used for the P values because the numbers are small.

e

The total number of analyzed samples differs among the variations (but they are generally 2203).

f

African American data from NHLBI GO ESP (Exome Variant Server, NHLBI GO Exome Sequencing Project [ESP], Seattle, WA). http://evs.gs.washington.edu/EVS/. Accessed July 25, 2014.