rs104894201, CRYAB

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alpha-B Crystallinopathy
CUI: C1837317
Disease: Alpha-B Crystallinopathy
4 0.763 0.280 11 111908934 missense variant T/C snv 0.800 1.000 4 1998 2012
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.763 0.280 11 111908934 missense variant T/C snv 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.763 0.280 11 111908934 missense variant T/C snv 0.060 1.000 6 2005 2019
Cataract
CUI: C0086543
Disease: Cataract
124 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.763 0.280 11 111908934 missense variant T/C snv 0.030 1.000 3 2005 2014
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 0.763 0.280 11 111908934 missense variant T/C snv 0.030 1.000 3 2002 2011
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.763 0.280 11 111908934 missense variant T/C snv 0.020 1.000 2 2011 2019
Age-related cataract
CUI: C0036646
Disease: Age-related cataract
15 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2019 2019
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2003 2003
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2011 2011