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
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs768608755
PAX3
1.000 0.080 2 222294286 missense variant C/A;T snv 1.2E-05 1
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17