Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4420638
APOC1
0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 36
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 29
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 25
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 20
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
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 15
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 11
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 10
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs515726205
C19orf12
0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 6
rs765061840
SPG11
0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 6
rs157582
TOMM40
0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 6
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 5
rs371334506
SPG11
0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 5
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv 4
rs1557136818
MECP2
0.925 0.120 X 154031259 missense variant C/T snv 4