Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
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
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 17
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
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
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 10
rs138008832
PDGFRB
1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs515726205
C19orf12
0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs200455852
ASAH1
0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 6
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
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 5
rs80338777
CACNA1S
0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 4
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs587777721
SCN8A
0.925 0.160 12 51806336 missense variant G/A snv 4
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 3