Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs9536314
KL
0.925 0.160 13 33054001 missense variant T/A;G snv 0.14 3
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs3736228
LRP5
0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13
rs121908668
LRP5
0.882 0.240 11 68357673 missense variant G/T snv 5
rs4988321
LRP5
0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 4
rs312009
LRP5
0.925 0.080 11 68309770 upstream gene variant T/A;C snv 2
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs104893941
MRNIP ; SQSTM1
0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 9
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs773472534
OPA1-AS1 ; OPA1
0.925 0.120 3 193618885 synonymous variant G/A snv 2.8E-05 2
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 16
rs28360457
P2RX7 ; LOC105370032
0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02 3
rs1653624
P2RX7 ; LOC105370032
0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 2
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47