Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs797045164
KIF1A
0.851 0.120 2 240785063 missense variant G/A snv 8
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs1554700678
HNRNPK
0.925 0.080 9 83975466 missense variant C/T snv 4
rs1555703272
SLC25A10
0.925 0.080 17 81715568 stop gained A/T snv 4