Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs13107325
SLC39A8
0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 34
rs5219
KCNJ11
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs12579302
ATP2B1
0.851 0.120 12 89656726 intron variant A/G snv 0.15 19
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs1378942
CSK
0.790 0.240 15 74785026 intron variant C/A;T snv 16
rs7137828
ATXN2
0.763 0.200 12 111494996 intron variant C/A;T snv 15
rs198851
H4C3
6 26104404 downstream gene variant T/A;C;G snv 15
rs1004467
CYP17A1 ; CYP17A1-AS1
0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 13
rs1859168
HOTTIP
0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 13
rs11065979 0.851 0.200 12 111621753 intergenic variant C/T snv 0.30 12
rs17249754
ATP2B1
0.882 0.120 12 89666809 intron variant G/A snv 0.15 12
rs11066301
PTPN11
0.827 0.200 12 112433568 intron variant A/G snv 0.30 12
rs7310615
SH2B3
0.882 12 111427245 intron variant C/G snv 0.67 12
rs12509595 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 10
rs1458038 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 10
rs16998073 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 10
rs633185
ARHGAP42
0.925 0.080 11 100722807 intron variant G/A;C snv 10
rs2681492
ATP2B1
0.925 0.040 12 89619312 intron variant T/C;G snv 10
rs11014166
CACNB2
0.882 0.040 10 18419869 intron variant A/T snv 0.27 10
rs11191548
CNNM2
0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 10