Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs1553693712
BRPF1
1.000 3 9734167 frameshift variant TT/- delins 2
rs80338686
BTD
0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 3
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv 6
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1553238271
CAMTA1
1.000 1 7661827 stop gained C/T snv 2
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06 2
rs1553845569
CC2D2A
4 15599527 splice acceptor variant A/G snv 1
rs1555721837
CCDC151
1.000 19 11423933 stop gained G/A snv 2
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057519632
CDK13
1.000 7 39999467 missense variant G/A snv 2
rs786204963
CDKL5
0.925 0.080 X 18588055 missense variant A/C snv 3
rs786204967
CDKL5
1.000 0.040 X 18604169 frameshift variant AG/- delins 2