Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11824092
ARNTL
0.925 0.080 11 13324747 intron variant T/C snv 0.62 1
rs1982350
ARNTL
11 13328584 intron variant A/G snv 0.57 1
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 2
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 3
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 4
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs397507562
GNPTAB
0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 6
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 10
rs10830963
MTNR1B
0.776 0.400 11 92975544 intron variant C/G snv 0.22 10
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 14