rs137852505, HPRT1

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.
Lesch-Nyhan Syndrome
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
32 1.000 0.120 X 134493564 stop gained T/G snv 0.700 0