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: rs387906428
rs387906428
HPRT1
1.000 0.120 X 134500063 stop lost AATACAAAGCCTAAGATGAGA/- delins
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 0
dbSNP: rs387906725
rs387906725
HPRT1
0.882 0.160 X 134475189 missense variant G/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 0
dbSNP: rs672601245
rs672601245
HPRT1
1.000 0.120 X 134500026 splice acceptor variant ATA/TTT mnv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 0