Disease: Familial (FPAH)
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
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs1800497
ANKK1
0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 56
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 42
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs165599
ARVCF ; COMT
0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 27
rs33939927
LRRK2
0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv 16
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 16
rs34778348
LRRK2 ; LOC105369736
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 15
rs17125721
PSEN1
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs572842823
APP
0.763 0.160 21 25897626 missense variant T/A;G snv 11
rs371425292
APP
0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 10
rs121912456
SOD1 ; LOC102724449
0.851 0.120 21 31659806 missense variant G/C snv 6
rs542171324
SNCA
0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 6
rs775129479
SPSB3 ; IGFALS
0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 6