Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs121908668
LRP5
0.882 0.240 11 68357673 missense variant G/T snv 5
rs72648365
COL1A1
0.925 0.240 17 50193990 missense variant G/A;C snv 2
rs72656307
COL1A1
0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 2
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 16
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv 10
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 13
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs2073617
COLEC10 ; TNFRSF11B
0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 9
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
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs3736228
LRP5
0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53 14
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43