Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 16
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 13
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 4
rs869312878
AUTS2
0.882 0.160 7 70766130 frameshift variant -/C delins 3
rs1057523820
CASK
1.000 0.120 X 41553740 missense variant G/A snv 1