rs80338851, 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 0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04 0.710 1.000 9 2006 2019
Polio and Post-Polio Syndrome
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
1 0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04 0.010 1.000 1 2019 2019
Popliteal pterygium syndrome
CUI: C0265259
Disease: Popliteal pterygium syndrome
17 0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04 0.010 1.000 1 2019 2019