Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 20
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv 7
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5