Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs1800947
CRP
0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 28
rs2794521
CRP
0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 15
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 11
rs387906315
GBA
0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 8
rs757891309
MTR
0.882 0.120 1 236850389 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs80356773
GBA
0.925 0.080 1 155235002 missense variant C/T snv 3
rs10914456
HCRTR1
1.000 0.040 1 31622570 intron variant T/C snv 0.51 2
rs11265263 1 159740727 intergenic variant C/A;T snv 2
rs228644
PER3
1.000 0.080 1 7806023 intron variant G/A snv 0.36 2
rs228682
PER3
1 7796286 intron variant T/C snv 0.35 2
rs12137927
PER3
1 7811169 intron variant T/C snv 0.20 1
rs757522886
MTR
1 236885125 missense variant C/T snv 8.0E-06 1
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs1143643
IL1B
0.790 0.320 2 112830725 intron variant C/T snv 0.29 10
rs7582472 2 133887223 regulatory region variant T/C snv 0.21 1
rs53576
OXTR ; CAV3
0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs2254298
CAV3 ; OXTR
0.701 0.200 3 8760542 intron variant G/A snv 0.16 23
rs2535629
ITIH3
0.827 0.040 3 52799203 intron variant G/A;C snv 9
rs1409851868
EPHA3
0.882 0.080 3 89399325 missense variant A/G snv 6
rs2239547
ITIH4
0.882 0.040 3 52821213 intron variant T/C snv 0.27 6