Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 9
rs1567558314
MYH3
0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 7
rs1569172839
MYO18B
0.925 0.080 22 25903716 frameshift variant -/G delins 2