Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs932485786
ARX
1.000 0.040 X 25015654 stop gained G/A;T snv 2
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs1553709380
ATP6V1A
0.925 0.040 3 113778833 missense variant C/G snv 1
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv 1
rs184953805
ATRIP ; TREX1 ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv 8
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 7
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 2
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36 7