Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs864309484
ADCY5
1.000 0.080 3 123291354 missense variant A/T snv 4
rs796065306
ADCY5
1.000 0.080 3 123319754 missense variant C/T snv 4
rs786205861
GCDH
1.000 0.120 19 12896913 missense variant C/T snv 3
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs80358233
TOR1A
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 2
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs754609693
ECHS1
0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 3
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 3
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57