Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 9
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv 1
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs1559619762
FOXP1
1.000 0.040 3 70977827 splice donor variant C/G snv 2
rs1057518999
FOXP1
1.000 0.040 3 70977826 splice donor variant A/G snv 1
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19