Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs7582694
STAT4
0.763 0.400 2 191105394 intron variant C/G snv 0.77 9
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs118203478
TSC1
0.882 0.200 9 132911492 frameshift variant -/A;AA delins 5
rs1555487316
UMOD
0.882 0.240 16 20348247 missense variant A/C snv 5
rs17319721
SHROOM3
0.925 0.080 4 76447694 intron variant G/A snv 0.34 5
rs1569492161
COL4A5
0.882 0.280 X 108586729 missense variant G/C snv 4
rs867394500
ACE
0.851 0.080 17 63477301 missense variant G/T snv 4
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins 3
rs281874657
COL4A5
0.925 0.160 X 108586717 stop gained C/T snv 3
rs7222094
MAP3K14
0.882 0.120 17 45290287 intron variant T/C snv 0.54 3
rs1567202189
PKD1
1.000 0.080 16 2111276 inframe insertion -/GTG ins 2
rs12704795
PON2
1.000 0.080 7 95424695 intron variant T/G snv 0.34 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs367825197
PODXL
0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06 2
rs1382048442
ABCC2
0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs538166970
ACE
0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06 2
rs188942711
COL4A3 ; MFF-DT
0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 9
rs530391015
INF2
0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 5
rs771454167
CEP290
0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 6
rs138207257
HOGA1
0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-04 2