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: rs398122937
rs398122937
GJA3
3 0.882 0.040 13 20142862 missense variant C/T snv 0.020 1.000 2 2013 2018
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: rs104893736
rs104893736
CRYGS
5 0.827 0.040 3 186539566 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs118203966
rs118203966
CHMP4B
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
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: 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: rs140372256
rs140372256
CRYGA
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1483130765
rs1483130765
CRYGS
2 0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs375933774
rs375933774
CRYAB ; HSPB2 ; HSPB2-C11orf52
2 0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs398122392
rs398122392
CRYGC ; LOC100507443
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315441
rs74315441
CRYAA ; LOC107987300
3 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs750872744
rs750872744
CRYGC ; LOC100507443
2 0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs781902168
rs781902168
CRYAB ; HSPB2 ; HSPB2-C11orf52
3 0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs930526408
rs930526408
BFSP2 ; BFSP2-AS1
2 0.925 0.040 3 133472412 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs79121622
rs79121622
HSF4
5 0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05 0.010 < 0.001 1 2014 2014
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: rs267607087
rs267607087
SPTLC1
5 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338
WRN
7 0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs2725383
rs2725383
WRN
6 0.807 0.120 8 31075099 intron variant C/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
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: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2011 2011
dbSNP: rs80084721
rs80084721
GALK1
2 0.925 0.160 17 75763032 missense variant G/A;T snv 1.2E-03 0.010 1.000 1 2001 2001