Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1554950703
LOC105378526 ; HTRA1
1.000 0.200 10 122489463 missense variant C/G snv 2
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs1557136818
MECP2
0.925 0.120 X 154031259 missense variant C/T snv 4
rs1557372 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 2
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs157582
TOMM40
0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 8
rs16885997 8 114496877 intergenic variant G/T snv 3.5E-02 1
rs16947151
ABI3
0.882 0.080 17 49213276 intron variant A/G snv 0.12 4
rs17070145
WWC1
0.790 0.120 5 168418786 intron variant C/T snv 0.43 10
rs17125721
PSEN1
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs17518584
CADM2
0.827 0.160 3 85555773 intron variant C/T snv 0.50 8
rs17601241
MIR4713HG ; CYP19A1
1.000 0.040 15 51215677 intron variant G/A snv 0.11 8.6E-02 2
rs17641411
GABRA4
4 46941670 intron variant C/T snv 2.8E-02 1
rs17746510
RAPGEF4
0.882 0.080 2 173019562 intron variant T/C;G snv 5
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs193922916
APP
0.827 0.080 21 25897619 missense variant G/A;C snv 6