Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
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
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs139751598
PYCR1
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 3
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