Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1048661
LOXL1-AS1 ; LOXL1
0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 14
rs104893685
BFSP2-AS1 ; BFSP2
0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs104893736
CRYGS
0.827 0.040 3 186539566 missense variant C/A snv 5
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 5
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs11129182
RARB
0.925 0.120 3 25129806 intron variant T/C snv 0.82 2
rs1114167307
GJA3
0.851 0.200 13 20143233 missense variant G/A snv 4
rs11260867 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 1
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs11574311
WRN
0.776 0.160 8 31119144 intron variant T/C snv 0.16 8
rs1163215981
GZMM
1.000 0.040 19 544073 start lost T/C snv 2.6E-05 1
rs118203965
CHMP4B
0.925 0.040 20 33850969 missense variant A/T snv 2
rs118203966
CHMP4B
0.882 0.040 20 33851064 missense variant G/A snv 3
rs1215029143
IKBKG
1.000 0.040 X 154558608 missense variant G/A;T snv 2
rs1215603718
AQP1
0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 3
rs121909595
LOC100507443 ; CRYGD
0.925 0.040 2 208124321 missense variant G/A snv 3
rs121909596
LOC100507443 ; CRYGD
0.925 0.040 2 208124188 missense variant C/T snv 3
rs121909598
CRYGD ; LOC100507443
0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 3
rs121912973
CRYAA ; LOC107987300
0.882 0.040 21 43172105 missense variant G/A snv 3
rs121917867
MIP
0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 2