Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18