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: rs137852477
rs137852477
HPRT1
1.000 0.120 X 134490199 missense variant T/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 1.000 12 1983 2014