Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs200533370
SYN1
0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 1
rs397514680
SYN1
0.925 0.160 X 47574336 missense variant C/G;T snv 1
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 1
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv 1
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del 1
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27