Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2388334 0.882 0.040 6 98143746 intron variant A/G snv 0.39 5
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 1
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 4
rs1561824498
MEF2C
1.000 0.040 5 88752044 splice acceptor variant C/A snv 1
rs796052733
MEF2C
1.000 0.040 5 88731773 stop gained G/A snv 1
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1564801473
KLLN ; PTEN
1.000 0.040 10 87864406 5 prime UTR variant -/C delins 1
rs1564801388
PTEN ; KLLN
1.000 0.040 10 87864353 5 prime UTR variant -/G delins 1
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 2
rs878853147
NLGN3
0.925 0.200 X 71169399 missense variant C/T snv 1
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1565527302
SHANK2
1.000 0.040 11 70485988 frameshift variant TG/- del 1
rs1564950387
DEAF1
1.000 0.040 11 687909 splice donor variant A/C snv 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 1
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6
rs1800692
TNFRSF1A
0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 1
rs1452075
CADPS
1.000 0.040 3 62495388 intron variant C/T snv 0.73 4
rs526126
FADS2
1.000 0.040 11 61857413 intron variant G/C;T snv 0.81; 8.0E-06 2
rs1569305431
IQSEC2
1.000 0.040 X 53254702 frameshift variant G/- delins 1
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4