Disease: Complete atrioventricular block
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs3775291
TLR3
0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22
rs35761398
CNR2
0.701 0.520 1 23875429 missense variant TT/CC mnv 19
rs3077
HLA-DPA1
0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 16
rs3775290
TLR3
0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 15
rs2296651
SLC10A1
0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 13
rs61330082
NAMPT
0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 13
rs9277535
HLA-DPB1
0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 13
rs1053004
STAT3
0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 11
rs2280714
TNPO3
0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 10
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 10
rs652888
EHMT2-AS1 ; EHMT2 ; LOC107986588 ; CYP21A2
0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 10
rs7453920
HLA-DQB2
0.752 0.440 6 32762235 intron variant A/G;T snv 10
rs13419896
EPAS1
0.776 0.240 2 46329206 intron variant G/A snv 0.10 8
rs2856718 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 8
rs3130542 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 8
rs9275319 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 6
rs11977021 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 5