Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1172063879
ACACA
1.000 0.040 17 37259427 missense variant C/T snv 4.0E-06 1
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs371010069
ACE
1.000 0.040 17 63486654 missense variant G/A snv 2.4E-05 7.0E-06 1
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19 8
rs6632677
ACE2
0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 4
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 9
rs727504323
ACTC1 ; LOC101928174
1.000 0.040 15 34792105 missense variant G/C snv 1
rs727502886
ACTN2
0.925 0.040 1 236719007 missense variant G/A snv 3
rs755492182
ACTN2
0.882 0.080 1 236735677 missense variant C/T snv 3
rs200631005
ACTN2
0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03 2
rs786204951
ACTN2
0.925 0.040 1 236753990 missense variant A/G snv 2
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs5182
AGTR1
0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 16
rs1403543
AGTR2
1.000 0.040 X 116170939 intron variant G/A snv 0.48 2
rs200889953
ALPK3
1.000 0.040 15 84839087 stop gained C/T snv 1
rs745688425
ALPK3
1.000 0.040 15 84858461 frameshift variant C/- delins 1.1E-05 7.0E-06 1
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs746536347
ATAD3B
0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 3
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1199713333
CACNA1C
0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 2
rs751224055
CACNA1C
0.925 0.040 12 2674574 missense variant C/A;T snv 5.2E-06; 5.2E-06 2
rs1057518933
CASR
0.851 0.160 3 122284403 missense variant G/A snv 5
rs116840799
CAV3 ; SSUH2
1.000 0.040 3 8745599 missense variant C/G snv 2
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12