Source: UNIPROT

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: rs137852483
rs137852483
HPRT1
1.000 0.120 X 134490192 missense variant T/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.810 1.000 15 1983 2014
dbSNP: rs137852488
rs137852488
HPRT1
1.000 0.120 X 134475257 missense variant G/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.810 1.000 15 1983 2014
dbSNP: rs137852480
rs137852480
HPRT1
1.000 0.120 X 134473453 missense variant T/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852481
rs137852481
HPRT1
1.000 0.120 X 134475268 missense variant C/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852486
rs137852486
HPRT1
1.000 0.120 X 134498670 missense variant T/G snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852487
rs137852487
HPRT1
1.000 0.120 X 134475255 missense variant G/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852490
rs137852490
HPRT1
1.000 0.120 X 134500030 missense variant C/G snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852491
rs137852491
HPRT1
1.000 0.120 X 134473465 missense variant G/A snv 4.4E-05
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852492
rs137852492
HPRT1
1.000 0.120 X 134498433 missense variant G/T snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852493
rs137852493
HPRT1
1.000 0.120 X 134498431 missense variant C/T snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852496
rs137852496
HPRT1
1.000 0.120 X 134493533 missense variant T/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs267606863
rs267606863
HPRT1
1.000 0.120 X 134498655 missense variant G/A;C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.800 1.000 15 1983 2014
dbSNP: rs137852495
rs137852495
HPRT1
0.925 0.120 X 134475216 missense variant T/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 1.000 15 1983 2014
dbSNP: rs1556026984
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.700 1.000 15 1983 2014