Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042309696
ACE
17 63487006 synonymous variant T/C snv 2
rs1042580 20 23046984 3 prime UTR variant T/C snv 0.33 2
rs1058261
DES
2 219420587 synonymous variant C/T snv 0.33 0.37 2
rs10786156 10 94254865 intron variant C/G snv 0.44 0.47 2
rs10882397 10 94132902 intron variant C/A snv 0.52 2
rs113230003 19 18350146 intron variant G/A snv 0.25 2
rs117539635 15 69390577 intron variant A/G snv 1.6E-02 2
rs13179413 5 56572270 intron variant C/T snv 0.26 2
rs13210511 6 126834566 intron variant C/T snv 0.38 2
rs1406961 20 63264568 intron variant A/C snv 0.87 2
rs1431648262 8 26756585 3 prime UTR variant G/C snv 1.2E-05 2
rs1436138 17 77320798 intron variant A/G snv 0.42 2
rs1440371 15 66648746 intron variant G/A snv 0.27 2
rs1560833 1 153362049 downstream gene variant G/A snv 0.22 2
rs16857031 1 162143120 intron variant C/G snv 0.18 2
rs17677603 5 128521800 intron variant A/G snv 0.50 2
rs1800321
OTC
X 38367350 missense variant A/G snv 0.19 0.26 2
rs1845034 6 50335316 intergenic variant C/T snv 0.22 2
rs189349094 19 49642643 intron variant C/T snv 3.9E-03 2
rs2143678 6 41655295 downstream gene variant G/T snv 0.19 2
rs2175898 6 151875817 intron variant C/G;T snv 2
rs2236295
ADO
10 62805132 missense variant G/C;T snv 0.32 2
rs2255531 12 120977112 intron variant G/A snv 0.35 2
rs2301597 17 45095905 intron variant T/C snv 0.52 2
rs2493296 1 3410468 intron variant C/G;T snv 2