rs1553404194, LRPPRC

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.
Leigh syndrome , French Canadian type
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
44 1.000 0.120 2 43948410 splice donor variant A/T snv 0.700 0