Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11190870 0.827 0.200 10 101219450 intergenic variant T/A;C snv 6
rs11598177 1.000 0.040 10 101220399 regulatory region variant T/C snv 0.47 1
rs1322332 1.000 0.040 10 101222891 downstream gene variant T/C snv 0.50 1
rs1407409 1.000 0.040 10 101225650 upstream gene variant T/C snv 0.22 1
rs1535462 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 1
rs200590764 1.000 0.040 10 101216904 intergenic variant -/T delins 6.6E-03 1
rs3950032 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 1
rs76319884 1.000 0.040 10 101216249 intergenic variant C/G snv 8.8E-02 1
rs7914775 1.000 0.040 10 101216904 intergenic variant C/T snv 8.8E-02 1
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs6570507
ADGRG6
0.827 0.240 6 142358435 intron variant G/A snv 0.47 13
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs2281894
CELSR2
1.000 0.040 1 109267922 synonymous variant C/A snv 0.22 0.17 1
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs10510181
CHL1-AS2
0.882 0.200 3 149364 intron variant G/A snv 0.31 4
rs1568097
CHL1-AS2
1.000 0.040 3 138468 intron variant T/C snv 0.42 1
rs1588962
CHL1-AS2
1.000 0.040 3 142352 intron variant T/C snv 0.32 1
rs4684051
CHL1-AS2
1.000 0.040 3 136842 intron variant A/G snv 0.34 1