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: rs139750142
rs139750142
CRYAB
2 0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-05 0.010 1.000 1 2020 2020
dbSNP: rs387907339
rs387907339
CRYAB
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs33912345
rs33912345
SIX6 ; C14orf39
7 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs930811941
rs930811941
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 1.000 0.200 11 111911690 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs397515625
rs397515625
CRYAA ; LOC107987300
3 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.720 1.000 3 2013 2018
dbSNP: rs104894175
rs104894175
PITX3
3 0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1374340901
rs1374340901
CRYAA2 ; LOC102724701 ; LOC102724843
1 1.000 0.200 21 6560844 missense variant G/A snv 1.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs397515626
rs397515626
CRYAA ; LOC107987300
2 0.925 0.200 21 43169161 missense variant G/A snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs121434643
rs121434643
GJA8
4 0.851 0.200 1 147908094 missense variant G/A;C snv 0.030 1.000 3 2011 2017
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.720 1.000 3 2016 2017
dbSNP: rs1463326176
rs1463326176
CRYGD ; LOC100507443
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.020 1.000 2 2017 2017
dbSNP: rs1554985722
rs1554985722
PAX6
2 0.925 0.200 11 31802714 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs202233735
rs202233735
CRYGD ; LOC100507443
1 1.000 0.200 2 208124196 stop gained G/C;T snv 6.3E-03; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs370803064
rs370803064
CRYAB
3 0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.827 0.200 11 111911559 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7278468
rs7278468
CRYAA ; LOC107987300
3 0.882 0.280 21 43168647 upstream gene variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs111534978
rs111534978
NHS
1 1.000 0.200 X 17727793 stop gained C/A;T snv 4.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs144451841
rs144451841
CRYAB
1 1.000 0.200 11 111910331 missense variant C/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs147344332
rs147344332
CRYBB2
1 1.000 0.200 22 25231737 missense variant T/G snv 1.1E-04 7.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs74315490
rs74315490
CRYBB3
2 0.925 0.200 22 25207069 missense variant G/A;C snv 2.0E-05; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs864309677
rs864309677
GJA8
1 1.000 0.200 1 147908074 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs864309678
rs864309678
MAF ; LOC101928230
1 1.000 0.200 16 79599084 missense variant C/G snv 0.700 1.000 1 2016 2016