Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs7439366
UGT2B7
0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 16
rs4292394
UGT2B7
4 69107231 synonymous variant C/G snv 0.56 0.59 2
rs6600893
UGT2B7
4 69113183 downstream gene variant T/C snv 0.59 2
rs6600879
UGT2B7
4 69094669 intron variant C/G snv 0.58 1
rs6600880
UGT2B7
4 69094762 intron variant T/A snv 0.58 1
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs3173615
TMEM106B
0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs80356727
TARDBP
0.925 0.080 1 11022400 missense variant C/A snv 3
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs3794087
SLC1A2
0.851 0.120 11 35308068 intron variant G/T snv 0.20 6
rs587777721
SCN8A
0.925 0.160 12 51806336 missense variant G/A snv 4
rs11868035
RAI1 ; SREBF1
0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 14
rs35986369
RAB5A
1.000 0.040 3 19950975 frameshift variant -/GG delins 2
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
rs138008832
PDGFRB
1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05 3
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23