Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 32
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs139751598
PYCR1
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 9
rs1557196978
ATP6AP1
0.851 0.120 X 154432444 missense variant T/G snv 8
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs149396611
FBLN5
0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 4
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 4
rs121434303
FBLN5
0.882 0.120 14 91870336 missense variant C/T snv 3
rs28939370
FBLN5
0.882 0.120 14 91887253 missense variant A/G snv 3
rs80338766
FBLN5
0.882 0.120 14 91887283 missense variant A/G snv 3
rs121918376
PYCR1
0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 3
rs144346996
PYCR1
0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05 3
rs80338765
FBLN5
0.925 0.080 14 91891236 missense variant C/T snv 2.8E-04 1.2E-04 2
rs149740908
MIR6515 ; CALR
0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 2
rs774842795
NLRP3
0.925 0.120 1 247444692 missense variant T/C snv 4.0E-06 2
rs121918375
PYCR1
0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05 2
rs1064793880
ELN
1.000 0.080 7 74046755 missense variant C/T snv 1