Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397518447
GRIN2A
0.925 0.040 16 9829585 missense variant G/T snv 1
rs886040861
GRIN2D
0.925 0.040 19 48419722 missense variant G/A snv 1
rs1057519547
HCN1
0.925 0.040 5 45396550 missense variant C/T snv 2
rs1057519548
HCN1
0.925 0.040 5 45645575 missense variant C/G snv 2
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv 3
rs1135401732
HNRNPU
1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 1
rs779453109
HNRNPU
1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 1
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1568658507
KCNB1
1.000 0.040 20 49482353 missense variant T/C snv 1
rs1569017045
KCNB1 ; LOC105372649
1.000 0.040 20 49374359 missense variant C/T snv 1
rs1569017123
KCNB1 ; LOC105372649
1.000 0.040 20 49374421 missense variant T/C snv 1
rs1569017143
KCNB1 ; LOC105372649
1.000 0.040 20 49374428 missense variant C/G snv 1
rs1569017174
KCNB1 ; LOC105372649
1.000 0.040 20 49374455 missense variant A/G snv 1
rs1569017337
KCNB1 ; LOC105372649
1.000 0.040 20 49374703 frameshift variant A/- del 1
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 4
rs74315392
KCNQ2
0.851 0.080 20 63442482 stop gained G/A;C;T snv 3
rs1057516094
KCNQ2
0.925 0.040 20 63442420 missense variant G/A snv 2
rs1057516099
KCNQ2
0.925 0.040 20 63439624 missense variant C/T snv 2
rs118192235
KCNQ2 ; LOC105372724
0.882 0.080 20 63413471 missense variant C/A;T snv 2
rs1057519535
KCNQ2
0.925 0.040 20 63439652 missense variant C/A;G snv 1
rs1057519536
KCNQ2
0.925 0.040 20 63442424 missense variant A/T snv 1
rs1555850842
KCNQ2
1.000 0.040 20 63407136 frameshift variant -/G delins 1
rs727503973
KCNQ2
0.925 0.040 20 63439665 missense variant G/A;T snv 1