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: rs137852489
rs137852489
HPRT1
0.925 0.160 X 134486471 stop gained C/A;T snv 2.4E-05
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 1.000 3 1990 1997
dbSNP: rs1556030169
rs1556030169
HPRT1
0.925 0.160 X 134498683 frameshift variant -/T delins
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 1.000 3 2000 2017
dbSNP: rs137852497
rs137852497
HPRT1
0.925 0.200 X 134498412 stop gained C/A;T snv 4.4E-05
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.710 1.000 1 2008 2008