Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs17007739 1.000 0.040 4 83920097 intron variant T/G snv 0.38 1
rs1718101
CNTNAP2
1.000 0.040 7 146425696 intron variant T/C;G snv 1
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 12
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs11585926
TRIM33
1.000 0.040 1 114431068 intron variant T/C snv 0.22 3
rs4773054 1.000 0.040 13 109501681 intron variant T/C snv 0.89 2
rs6894838 0.925 0.080 5 25944837 intergenic variant T/C snv 0.63 2
rs10038113 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 1
rs10513025 1.000 0.040 5 9623510 non coding transcript exon variant T/C snv 5.4E-02 1
rs10858047 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 1
rs11211996
GUCY1A2
1.000 0.040 11 106987949 intron variant T/C snv 0.15 1
rs11589568
TRIM33
1.000 0.040 1 114453702 intron variant T/C snv 0.14 1
rs12194182
SLC22A3
1.000 0.040 6 160413483 intron variant T/C snv 0.21 1
rs13166776 1.000 0.040 5 25971247 intron variant T/C snv 0.28 1
rs1409313
CUEDC2
1.000 0.040 10 102431844 intron variant T/C snv 0.85 1
rs14135
MACROD2 ; MACROD2-AS1
1.000 0.040 20 14884510 non coding transcript exon variant T/C snv 0.26 1
rs16976358
LINC00907
0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 1
rs1896731 1.000 0.040 5 25898911 intergenic variant T/C snv 0.38 1
rs1936295 1.000 0.040 10 117902581 intergenic variant T/C snv 0.83 1
rs200533370
SYN1
0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 1