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
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
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
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 16
rs1473998316
COL1A1
1.000 0.080 17 50195926 synonymous variant A/G snv 1
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 8
rs4355801 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 5
rs1555222973
CREB3L1
0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs1057518930
COL1A1
1.000 0.080 17 50197009 splice donor variant C/G snv 3
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs139751598
PYCR1
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs3736228
LRP5
0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13
rs104893941
MRNIP ; SQSTM1
0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 9