Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs1114167293
C12orf57
0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 7
rs953686324
CLCNKB
0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 7
rs387906819
GATA6
0.882 0.120 18 22181517 missense variant G/A snv 6
rs1565286228
MYRF
0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 6
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs151344531
TFAP2A ; TFAP2A-AS2
0.925 0.120 6 10402608 missense variant G/A snv 2