Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs104894442
GCH1
1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 3
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv 2
rs1057519279
KMT2B
1.000 19 35720980 stop gained C/T snv 3
rs1057519281
KMT2B
1.000 19 35721775 stop gained C/T snv 3
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs11655081
ARSG
0.851 0.080 17 68386068 intron variant T/C snv 0.18 7
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs121908683
PLA2G6
0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 5
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2