Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 9
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 9
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del 7
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv 6
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs1555228665
SCN8A
0.882 0.080 12 51788702 missense variant T/C snv 4
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv 2
rs886039529
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.080 2 166036051 frameshift variant TT/- delins 2
rs267606837
GABRG2
0.851 0.080 5 162097839 missense variant C/G snv 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs121918631
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166056450 stop gained A/G;T snv 1
rs1553553485
SCN1A-AS1 ; SCN1A
1.000 0.080 2 166058626 stop gained G/C snv 1
rs121917748
SCN2A
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 1