rs1555496968, COG7

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 2E
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
4 1.000 0.080 16 23445968 splice region variant T/C snv 0.700 0