Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 10
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 8
rs80356733
TARDBP
0.790 0.200 1 11022451 missense variant G/T snv 7
rs1927907
TLR4
0.790 0.320 9 117710486 intron variant C/T snv 0.18 7
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs746581714
IGHMBP2
0.882 0.120 11 68917801 frameshift variant AAGAA/- delins 8.0E-06 2.8E-05 4
rs780594709
IGHMBP2
0.882 0.120 11 68933854 missense variant C/T snv 6.3E-05 2.8E-05 4
rs121917836
SFTPC
0.882 0.040 8 22162727 missense variant G/A snv 4
rs80356734
TARDBP
0.851 0.160 1 11022464 missense variant A/G snv 4
rs72466485
DCTN1
0.882 0.200 2 74378068 missense variant C/T snv 3
rs770153273
DCTN1
0.882 0.200 2 74371569 missense variant C/G snv 3.0E-05 3
rs372318863
EXOSC9
0.882 0.160 4 121804718 stop gained C/G;T snv 8.0E-06; 2.0E-05 3
rs368775789
IGHMBP2
0.925 0.120 11 68935403 missense variant C/A;T snv 2.8E-05 2
rs1561500885
SMN1 ; SMN2
1.000 0.040 5 70946138 missense variant T/C snv 2
rs181657861
IGHMBP2
1.000 0.040 11 68908232 missense variant C/T snv 9.5E-04 4.6E-04 1