Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10497655
LOC105373780 ; ZNF804A
1.000 0.040 2 184597314 intron variant T/C;G snv 1
rs10498676
ELOVL2
0.925 0.040 6 11026766 intron variant G/A snv 0.18 1
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 3
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1
rs11787216 1.000 0.040 8 141605122 intron variant C/T snv 0.26 2
rs121908445
CNTNAP2
0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04 1
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
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121912562
NR3C2
0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 2
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 2
rs1276388879
POGZ
1.000 0.040 1 151405647 missense variant A/C;G snv 1
rs13294439 1.000 0.040 9 23358877 intron variant A/C snv 0.32 2
rs1372713010
POGZ
1.000 0.040 1 151428041 missense variant G/A snv 1
rs1396313317
CNTNAP2 ; LOC107986721
1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 1
rs1418634444
POGZ
1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06 1
rs1452048149
POGZ
1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06 1
rs1452075
CADPS
1.000 0.040 3 62495388 intron variant C/T snv 0.73 4
rs1476293577
POGZ
1.000 0.040 1 151428188 missense variant G/A;C snv 1
rs1484207450
POGZ
1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06 1
rs1553518509
MBD5
1.000 0.040 2 148468916 stop gained C/T snv 2
rs1555910143
SHANK3
0.925 0.120 22 50721257 frameshift variant CT/- del 2