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: rs397515625
rs397515625 		0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.720 1.000 3 2013 2018
dbSNP: rs11911275
rs11911275 		21 43173030 downstream gene variant A/G snv
CUI: C1832423
Disease: Cataract, Age-Related Nuclear
Cataract, Age-Related Nuclear 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs864309685
rs864309685 		1.000 0.200 21 43169241 missense variant T/C;G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1114167311
rs1114167311 		1.000 0.200 21 43172198 frameshift variant A/- del
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515623
rs397515623 		0.925 0.200 21 43169259 missense variant C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
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
dbSNP: rs74315440
rs74315440 		1.000 21 43169126 stop gained G/A;C snv 4.0E-06
CUI: C4015984
Disease: CATARACT 9, AUTOSOMAL RECESSIVE
CATARACT 9, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs397515624
rs397515624 		0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.020 1.000 2 2009 2011
dbSNP: rs397515624
rs397515624 		0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		Eye Diseases 0.020 1.000 2 2009 2011
dbSNP: rs398122947
rs398122947 		0.882 0.040 21 43170619 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.020 1.000 2 2006 2019
dbSNP: rs121912973
rs121912973 		0.882 0.040 21 43172105 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121912973
rs121912973 		0.882 0.040 21 43172105 missense variant G/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1227057051
rs1227057051 		1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1227057051
rs1227057051 		1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13053109
rs13053109 		1.000 0.080 21 43168609 non coding transcript exon variant G/C snv 4.1E-05
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs143349894
rs143349894 		0.925 0.200 21 43172168 missense variant G/C snv 4.0E-06
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs143349894
rs143349894 		0.925 0.200 21 43172168 missense variant G/C snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3761382
rs3761382 		1.000 0.080 21 43168313 intron variant C/T snv
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2016 2016