Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 52
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1569548274 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 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs63750756 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs752362727 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs1057524157 0.776 0.200 11 686962 missense variant A/C;T snv 19
rs606231435 0.827 0.240 19 41970539 missense variant C/T snv 18
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs7439366 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 16
rs74315431 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs11868035 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 14
rs1421405659 0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs3173615 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs781939614 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs781984979 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs80338777 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 10