Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80356713
ABCB7
0.925 0.120 X 75070499 missense variant C/A;G snv 1
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1563945076
APTX
0.925 0.160 9 32974556 frameshift variant A/- del 4
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs28940893
ARSA
0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 3
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 4
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs79267946
CA8
1.000 0.160 8 60232322 stop gained T/A;C snv 2
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 1
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 5
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 3
rs1568440440
CACNA1A
0.925 0.120 19 13228767 stop gained GT/- delins 3
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 2
rs121908214
CACNA1A
0.925 0.080 19 13230185 missense variant T/G snv 1
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 1
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 2
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 1