Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2008 2008
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1050829
rs1050829
G6PD
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs11129182
rs11129182
RARB
2 0.925 0.120 3 25129806 intron variant T/C snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs1114167307
rs1114167307
GJA3
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs11260867
rs11260867 		1 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1163215981
rs1163215981
GZMM
1 1.000 0.040 19 544073 start lost T/C snv 2.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs118203965
rs118203965
CHMP4B
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs118203966
rs118203966
CHMP4B
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1215029143
rs1215029143
IKBKG
2 1.000 0.040 X 154558608 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1215603718
rs1215603718
AQP1
3 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs121909595
rs121909595
CRYGD ; LOC100507443
3 0.925 0.040 2 208124321 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598
CRYGD ; LOC100507443
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912973
rs121912973
CRYAA ; LOC107987300
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs1227057051
rs1227057051
CRYAA ; LOC107987300
2 1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs1250875000
rs1250875000
CRYAA2 ; LOC102724701 ; LOC102724843
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1305547785
rs1305547785
VIM ; VIM-AS1
1 1.000 0.040 10 17229759 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1314710813
rs1314710813
MIP
1 1.000 0.040 12 56454277 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137853924
rs137853924
CRYGC ; LOC100507443
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012