CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912973
rs121912973
0.882 0.040 21 43172105 missense variant G/A snv
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.800 1.000 16 1998 2013
dbSNP: rs397515624
rs397515624
0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.800 1.000 12 1998 2013
dbSNP: rs74315439
rs74315439
0.790 0.200 21 43172104 missense variant C/A;T snv
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.800 1.000 7 1998 2013
dbSNP: rs74315441
rs74315441
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.800 1.000 7 1998 2013
dbSNP: rs397515623
rs397515623
0.925 0.200 21 43169259 missense variant C/T snv
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.700 0
dbSNP: rs397515625
rs397515625
0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.700 0
dbSNP: rs397515626
rs397515626
0.925 0.200 21 43169161 missense variant G/A snv 1.2E-05
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.700 0
dbSNP: rs398122947
rs398122947
0.882 0.040 21 43170619 missense variant G/A snv
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
Eye Diseases 0.700 0