Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs34015634
LRRK2
0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs11655081
ARSG
0.851 0.080 17 68386068 intron variant T/C snv 0.18 7
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs515726205
C19orf12
0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6