Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0086543
Disease: Cataract
Cataract 		0.040 1.000 4 2011 2019
dbSNP: rs150516929
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2010 2017
dbSNP: rs139750142
rs139750142
CRYAB
0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2020 2020
dbSNP: rs141638421
rs141638421
CRYAB
0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2017 2017
dbSNP: rs370803064
rs370803064
CRYAB
0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2017 2017
dbSNP: rs375933774
rs375933774
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2015 2015
dbSNP: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.827 0.200 11 111911559 missense variant G/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs387907339
rs387907339
CRYAB
0.882 0.280 11 111908967 missense variant C/A;G snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2020 2020
dbSNP: rs534473091
rs534473091
CRYAB
0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs781902168
rs781902168
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2015 2015
dbSNP: rs782809283
rs782809283
CRYAB ; HSPB2 ; HSPB2-C11orf52
1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010