Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 11
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs1565307564
TMEM258 ; MYRF
0.807 0.120 11 61783599 missense variant A/G snv 7