Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852494
rs137852494
HPRT1
0.925 0.160 X 134475197 stop gained C/G;T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 1.000 12 1983 2014
dbSNP: rs137852494
rs137852494
HPRT1
0.925 0.160 X 134475197 stop gained C/G;T snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 0