rs28939087, SLC35C1

N. diseases: 1
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.
Congenital disorder of glycosylation, type 2C
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
6 1.000 0.080 11 45806240 missense variant C/T snv 0.800 1.000 2 2001 2001