Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs28936375
CPT2
0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 15
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs2072446
LOC100288866 ; MIR6165 ; NGFR
0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 11
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8
rs104893856
PHOX2B
0.827 0.080 4 41746162 missense variant C/T snv 6
rs758440592
AAAS
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06 4
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 4
rs146486358
CUX1
0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 3
rs121909717
GFAP
0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04 3
rs73969684
SCN1A-AS1 ; SCN9A
1.000 0.040 2 166305834 missense variant C/G;T snv 1.2E-05; 2.8E-03 2