rs1556030169, HPRT1

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.
Gout, HPRT-Related
CUI: C0268117
Disease: Gout, HPRT-Related
19 0.925 0.160 X 134498683 frameshift variant -/T delins 0.700 1.000 3 2000 2017
Lesch-Nyhan Syndrome
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
32 0.925 0.160 X 134498683 frameshift variant -/T delins 0.700 1.000 3 2000 2017