Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
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
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8