Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs33939927
LRRK2
0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs3173615
TMEM106B
0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs80338777
CACNA1S
0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 10
rs138008832
PDGFRB
1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs200455852
ASAH1
0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs104894158
EGR2
0.851 0.080 10 62813835 missense variant A/T snv 5
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4