Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
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
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 3
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7