rs137852497, 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 0.200 X 134498412 stop gained C/A;T snv 4.4E-05 0.710 1.000 1 2008 2008
Lobular Neoplasia
CUI: C0861352
Disease: Lobular Neoplasia
3 0.925 0.200 X 134498412 stop gained C/A;T snv 4.4E-05 0.010 1.000 1 1998 1998