rs80338852, B3GLCT

N. diseases: 3
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.
Krause-Kivlin syndrome
CUI: C0796012
Disease: Krause-Kivlin syndrome
5 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
Irido-corneo-trabecular dysgenesis (disorder)
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
12 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010