Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs121908096
CYP27A1
0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 10
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv 10
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv 7
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv 5
rs797045905
ZRANB3 ; RAB3GAP1
0.851 0.360 2 135164629 stop gained T/G snv 5
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05 4
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv 4
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 3
rs1177898071
PSMC3
0.925 0.240 11 47419927 intron variant T/C;G snv 3
rs397515623
CRYAA ; LOC107987300
0.925 0.200 21 43169259 missense variant C/T snv 2
rs397515625
CRYAA ; LOC107987300
0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 2
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs74315489
CRYBB2
0.925 0.200 22 25231617 stop gained C/T snv 2
rs886041410
CRYBB2
0.925 0.200 22 25231717 missense variant G/A;T snv 2
rs74315490
CRYBB3
0.925 0.200 22 25207069 missense variant G/A;C snv 2.0E-05; 1.2E-05 2
rs864309681
ELP4 ; PAX6
0.925 0.200 11 31790816 frameshift variant G/- delins 2
rs864309691
GJA3
0.925 0.200 13 20143113 missense variant G/A snv 2
rs864309688
GJA8
0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 2
rs864309703
GJA8
1.000 0.200 1 147908106 missense variant G/A;C;T snv 2
rs1568480054
LIM2
0.925 0.200 19 51380577 missense variant G/A snv 2