Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs5186
AGTR1
0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10
rs1553553086
FARSB
0.827 0.280 2 222623699 missense variant C/T snv 9
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs863223330
SIX1 ; MIR9718
0.807 0.280 14 60648629 splice donor variant C/G snv 8
rs1114167293
C12orf57
0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 7
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs606231357
EYA1
0.882 0.120 8 71271753 splice region variant C/T snv 3
rs11759064
LOC105369171 ; PRKN
1.000 0.080 6 162379633 intron variant C/T snv 0.22 1