Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14 13
rs12722
COL5A1 ; LOC101448202
0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 6
rs147080557
NLRP12
0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 6
rs776974834
PIGT ; LOC107985405
0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 6
rs116840789
SSUH2 ; CAV3
0.925 0.080 3 8745547 missense variant G/A;T snv 6
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs1187636039
EPHA3
0.925 0.120 3 89341043 missense variant C/A snv 5
rs1555876283
PIGT ; LOC107985405
0.925 0.080 20 45416526 frameshift variant A/- del 5
rs138977195
SLC12A3
1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 5
rs4363657
SLCO1B1
12 21215788 intron variant T/C snv 0.18 5
rs398123383
LAMA2
1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 4
rs1263071018
CAV3 ; SSUH2
3 8745821 missense variant G/C snv 7.0E-06 2
rs2249492
COL1A1
1.000 0.040 17 50185660 intron variant C/G;T snv 0.59 2
rs759411064
DAG1
3 49530915 missense variant C/G snv 4.0E-06 2
rs1048379601
DMD
X 31773986 missense variant T/C snv 1.9E-05 2
rs7924316
INS-IGF2
11 2152217 intron variant T/G snv 0.50 1