Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv 11
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9
rs397514767
CD59
0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06 7
rs1553259662
MPZ
0.827 0.200 1 161306821 missense variant A/G snv 7
rs1565942358
FGD4
0.827 0.200 12 32640442 frameshift variant -/A delins 5
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 5
rs104894708
PRX
0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 5
rs116840819
GJB1
0.882 0.240 X 71223930 missense variant C/A;T snv 4
rs1554107200
HARS1
0.851 0.120 5 140679127 missense variant C/A snv 4
rs1565869918
FGD4
0.882 0.120 12 32582378 frameshift variant G/- delins 3
rs121908615
LITAF
0.925 0.120 16 11549693 missense variant C/T snv 4.0E-06 2
rs267607538
NEFL
0.925 0.120 8 24956451 missense variant G/C;T snv 2
rs1479452329
RNMT
1.000 0.080 18 13734476 missense variant G/A snv 1