rs137852495, 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.
Lesch-Nyhan Syndrome
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
32 0.925 0.120 X 134475216 missense variant T/C snv 0.700 1.000 15 1983 2014
Lesch-Nyhan Syndrome, Neurologic Variant
CUI: C1845892
Disease: Lesch-Nyhan Syndrome, Neurologic Variant
2 0.925 0.120 X 134475216 missense variant T/C snv 0.700 0