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
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53 14
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv 10
rs2073617
COLEC10 ; TNFRSF11B
0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 9
rs1423415130
XYLT2
0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 6
rs1555222973
CREB3L1
0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs121908668
LRP5
0.882 0.240 11 68357673 missense variant G/T snv 5
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv 5
rs4355801 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 5
rs1057516036
COL1A2
0.925 0.160 7 94423065 missense variant G/A snv 4
rs749292
CYP19A1 ; MIR4713HG
0.851 0.160 15 51266534 intron variant G/A snv 0.44 4