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
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs104894158 0.851 0.080 10 62813835 missense variant A/T snv 5
rs1052553 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 8
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs1057524157 0.776 0.200 11 686962 missense variant A/C;T snv 19
rs11868035 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 14
rs12593813 1.000 0.080 15 67744514 intron variant A/G snv 0.53 2
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs138008832 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs139194636 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs1421405659 0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs146170087 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1564282
GAK
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 3
rs1569548274 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs200455852 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs201893408 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs281865051 1.000 0.040 12 40319998 missense variant T/C snv 2
rs3173615 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs34016896 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 3
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78