rs74315490, CRYBB3

N. diseases: 2
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.
Cataract, Congenital Nuclear, Autosomal Recessive 2
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
2 0.925 0.200 22 25207069 missense variant G/A;C snv 2.0E-05; 1.2E-05 0.800 1.000 2 2005 2013
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 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