Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs1163944538 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373 0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs61753219 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1276519904 0.645 0.520 1 226071445 missense variant A/G snv 63
rs1555743003 0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs886040971 0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993 0.716 0.440 5 161331056 missense variant C/T snv 53
rs199469465 0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1057519389 0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs28934906 0.716 0.320 X 154031355 missense variant G/A snv 46
rs1557043622 0.695 0.400 X 48909843 missense variant C/A snv 46
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs780533096 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1560755661 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065 0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1569548274 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs866294686 0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs61755320 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs587784347 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs80338796 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177035 0.752 0.280 7 140801502 missense variant T/C snv 35
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs387907144 0.716 0.600 6 157181056 stop gained C/A;T snv 34