Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del 3
rs526126
FADS2
1.000 0.040 11 61857413 intron variant G/C;T snv 0.81; 8.0E-06 2
rs1564950387
DEAF1
1.000 0.040 11 687909 splice donor variant A/C snv 1
rs1565527302
SHANK2
1.000 0.040 11 70485988 frameshift variant TG/- del 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 1
rs375712202
LOC107984406 ; HEPACAM
1.000 0.040 11 124923339 splice donor variant C/T snv 9.6E-05 1.4E-05 1
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
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
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1564801388
PTEN ; KLLN
1.000 0.040 10 87864353 5 prime UTR variant -/G delins 1
rs1564801473
KLLN ; PTEN
1.000 0.040 10 87864406 5 prime UTR variant -/C delins 1
rs13294439 1.000 0.040 9 23358877 intron variant A/C snv 0.32 2
rs886037776
EHMT1
0.925 0.280 9 137817477 stop gained G/A snv 2
rs11787216 1.000 0.040 8 141605122 intron variant C/T snv 0.26 2
rs4534
GML ; CYP11B1
0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 1
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs7341475
RELN
0.851 0.240 7 103764368 intron variant G/A snv 0.17 2
rs121908445
CNTNAP2
0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04 1
rs1396313317
CNTNAP2 ; LOC107986721
1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 1
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 1
rs2710102
CNTNAP2
0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 1
rs7794745
CNTNAP2
0.851 0.040 7 146792514 intron variant A/T snv 0.49 1