Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs63750687 0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs74315401 0.683 0.320 20 4699525 missense variant C/T snv 32
rs405509 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 30
rs63750424 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 30
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs7493 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 24
rs63750756 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs63750231 0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs1801132 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 22
rs148881970 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs555145190 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs334558 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 20
rs12976445 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 20
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs63750215 0.701 0.240 1 226885603 missense variant A/T snv 19
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs2276109 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 18