Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555801872
RYR1
19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 2
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs121907960
HEXA
1.000 0.120 15 72349148 inframe deletion GAA/- delins 3
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs80338739
SLC6A8
0.925 0.120 X 153690428 inframe deletion CTT/- delins 3
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins 3
rs1555710171
TCF4
1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins 2
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06 2
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 3
rs1554340243
RMND1
1.000 6 151405237 stop lost A/G snv 2
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs864622194
RAB9B ; PLP1
0.925 0.080 X 103776997 start lost T/C;G snv 3
rs1468358104
FLVCR1 ; FLVCR1-DT
1 212858454 start lost T/C snv 3.7E-05 2
rs899735028
FLVCR1-DT ; FLVCR1
1 212858455 start lost G/T snv 1.4E-05 2
rs755820725
AP4S1
14 31066198 start lost T/A;C snv 4.0E-06; 4.0E-06 1
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs62514895
PAH
1.000 0.120 12 102917066 splice region variant C/A;T snv 7.2E-05 2
rs1431337923
SLC18A2
10 117255595 splice region variant AG/- delins 4.0E-06 1
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11