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: 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: 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: rs886041410
rs886041410
CRYBB2
2 0.925 0.200 22 25231717 missense variant G/A;T snv 0.710 1.000 1 2012 2012
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: rs1554985722
rs1554985722
PAX6
2 0.925 0.200 11 31802714 missense variant C/G snv 0.700 1.000 1 2017 2017
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: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
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
dbSNP: rs864309679
rs864309679
NHS
1 1.000 0.200 X 17726875 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309680
rs864309680
BCOR
1 1.000 0.200 X 40062174 frameshift variant TCTC/- del 0.700 1.000 1 2016 2016
dbSNP: rs864309681
rs864309681
PAX6 ; ELP4
2 0.925 0.200 11 31790816 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309682
rs864309682
CRYBA4 ; CRYBB1
1 1.000 0.200 22 26607953 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864309683
rs864309683
CRYBB2
1 1.000 0.200 22 25231710 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs864309684
rs864309684
GJA8
1 1.000 0.200 1 147908040 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs864309685
rs864309685
CRYAA ; LOC107987300
1 1.000 0.200 21 43169241 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs864309686
rs864309686
PAX6
1 1.000 0.200 11 31801721 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs864309687
rs864309687
GJA3
2 0.925 0.200 13 20143029 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309688
rs864309688
GJA8
3 0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864309689
rs864309689
CRYGC ; LOC100507443
1 1.000 0.200 2 208128399 frameshift variant GG/A delins 0.700 1.000 1 2016 2016
dbSNP: rs864309690
rs864309690
VIM ; VIM-AS1
2 0.925 0.200 10 17229436 frameshift variant C/- delins 0.700 1.000 1 2016 2016