Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins 3
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs80358312
LRP5
0.925 0.080 11 68403607 missense variant G/A snv 7.0E-06 4
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 4
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs80338739
SLC6A8
0.925 0.120 X 153690428 inframe deletion CTT/- delins 3
rs80338708
PMM2 ; LOC100130283
1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05 3
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs80338686
BTD
0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 3
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv 3
rs797045025
DDX3X
0.925 X 41344351 missense variant G/A snv 3
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv 3
rs797044951
GNAO1
1.000 16 56351396 missense variant G/A snv 3
rs797044947
COL4A2-AS1 ; COL4A2
1.000 13 110503855 missense variant G/A snv 7.0E-06 2
rs797044938
KCNQ2
20 63442529 missense variant C/A;G snv 2
rs797044897
ATP1A3
19 41984940 missense variant T/C snv 1
rs797044891
TIMM50
0.925 0.120 19 39488169 missense variant G/A snv 3
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv 4