Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs1555642784
CNTNAP1
0.851 0.160 17 42688979 frameshift variant -/C delins 5
rs1563390893
CA8
0.851 0.200 8 60281047 splice donor variant C/T snv 5
rs201128942
SNX14
0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05 5
rs1554107200
HARS1
0.851 0.120 5 140679127 missense variant C/A snv 4
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs750331613
GRID2
0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 5
rs1555789140
OVOL2 ; MGME1 ; SNX5
0.882 0.120 20 17970217 frameshift variant C/- delins 4
rs730882224
PNKP
0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 3