Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1048764460
COG4
1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 1
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv 4
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs1057518966
MUSK
1.000 0.040 9 110800743 missense variant G/A snv 4
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554121875
CAMK2A
0.882 0.040 5 150250281 missense variant T/C snv 7
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1554122129
CAMK2A
0.882 0.040 5 150252032 missense variant T/A snv 6
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554893835
PTEN
0.827 0.240 10 87894110 splice donor variant G/C;T snv 8
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11