rs751646311, HSD17B4

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.
Bifunctional peroxisomal enzyme deficiency
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
47 1.000 0.280 5 119536458 stop gained C/T snv 4.0E-06 0.700 1.000 1 2006 2006
PERRAULT SYNDROME 1
CUI: C4551721
Disease: PERRAULT SYNDROME 1
10 1.000 0.280 5 119536458 stop gained C/T snv 4.0E-06 0.700 0