Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507562
GNPTAB
0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 6
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 10
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs156243 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 6
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 16
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs1481892
ARNTL
11 13280374 intron variant G/C snv 0.62 3
rs10766075
ARNTL
0.925 0.080 11 13297040 intron variant C/T snv 0.27 6
rs11824092
ARNTL
0.925 0.080 11 13324747 intron variant T/C snv 0.62 7
rs1982350
ARNTL
11 13328584 intron variant A/G snv 0.57 4
rs3789327
ARNTL
0.925 0.080 11 13363769 intron variant A/G snv 0.53 6
rs11022778
ARNTL
0.925 0.080 11 13369313 intron variant T/A;G snv 6
rs11600996
ARNTL
1.000 0.040 11 13374619 intron variant T/C snv 0.40 4
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 14
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11