Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 12
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 8
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del 7
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1085307051
MEF2C-AS1 ; MEF2C
0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 5
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del 4
rs730882243
KCTD3
1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 3
rs869312670
LOC102724058 ; SCN1A ; SCN1A-AS1
0.925 0.160 2 166013745 frameshift variant A/- del 3
rs750693623
ALDH7A1
1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 2
rs1553531385
SCN1A ; LOC102724058 ; SCN1A-AS1
2 166012262 frameshift variant AATA/- del 1
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 1
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26