Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs550423482
PNPO
0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 6
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14