Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 6
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 4
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv 4
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3