Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1565922388
SYT1
0.925 12 79353599 missense variant T/A snv 5
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv 5
rs1565962725
SYT1
0.925 12 79448953 missense variant C/A snv 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs879253888
KIF1A
0.851 0.120 2 240783777 missense variant G/A snv 5
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4