rs387906725, HPRT1

N. diseases: 3
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.
Gout, HPRT-Related
CUI: C0268117
Disease: Gout, HPRT-Related
19 0.882 0.160 X 134475189 missense variant G/A snv 0.800 1.000 12 1983 2014
Lesch-Nyhan Syndrome
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
32 0.882 0.160 X 134475189 missense variant G/A snv 0.700 0
Lesch-Nyhan Syndrome, Neurologic Variant
CUI: C1845892
Disease: Lesch-Nyhan Syndrome, Neurologic Variant
2 0.882 0.160 X 134475189 missense variant G/A snv 0.700 0