rs201578674, PHYH

N. diseases: 2
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.
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
14 0.925 0.120 10 13295608 splice acceptor variant T/C snv 1.0E-04 1.7E-04 0.700 1.000 4 1997 2008
Refsum Disease, Adult, 1
CUI: C2749345
Disease: Refsum Disease, Adult, 1
2 0.925 0.120 10 13295608 splice acceptor variant T/C snv 1.0E-04 1.7E-04 0.700 0