Disease: Global developmental delay
Source: ALL
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
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
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
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
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6