Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs4343
ACE
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 14
rs5068
NPPA ; NPPA-AS1 ; CLCN6
0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 10
rs2070951
NR3C2
0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 9
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs2296545
LIPJ ; RNLS
0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv 7
rs1415088003
ACE
0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 7
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv 4
rs397516037
MYBPC3
0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 4
rs201278114
MYBPC3
0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 3
rs4966014
IGF1R
0.882 0.200 15 98704789 intron variant C/G;T snv 3
rs755492182
ACTN2
0.882 0.080 1 236735677 missense variant C/T snv 3
rs1349963459
PSEN1
0.925 0.080 14 73170901 missense variant G/T snv 2
rs2292462
NMB
1.000 0.080 15 84657523 intron variant G/C;T snv 2
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 2
rs1974201
ENPP1
1.000 0.080 6 131889981 intron variant G/A;C;T snv 1
rs2278239
CMYA5
1.000 0.080 5 79737483 missense variant A/C;G snv 0.14; 2.8E-05 1
rs238234
CAMTA2
1.000 0.080 17 4980523 missense variant C/A;G;T snv 5.6E-05; 0.75; 8.1E-06 1