Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852477
rs137852477
HPRT1
1 1.000 0.120 X 134490199 missense variant T/G snv 0.800 1.000 12 1983 2014
dbSNP: rs137852478
rs137852478
HPRT1
1 1.000 0.120 X 134475285 missense variant A/T snv 0.800 1.000 12 1983 2014
dbSNP: rs137852479
rs137852479
HPRT1
1 1.000 0.120 X 134498677 missense variant A/G snv 0.800 1.000 12 1983 2014
dbSNP: rs137852482
rs137852482
HPRT1
1 1.000 0.120 X 134486475 missense variant C/T snv 0.800 1.000 12 1983 2014
dbSNP: rs137852484
rs137852484
HPRT1
1 1.000 0.120 X 134493586 missense variant G/T snv 0.800 1.000 12 1983 2014
dbSNP: rs137852485
rs137852485
HPRT1
2 0.925 0.120 X 134475358 missense variant C/A snv 0.800 1.000 12 1983 2014
dbSNP: rs137852494
rs137852494
HPRT1
2 0.925 0.160 X 134475197 stop gained C/G;T snv 0.800 1.000 12 1983 2014
dbSNP: rs137852498
rs137852498
HPRT1
1 1.000 0.120 X 134498407 missense variant C/T snv 0.800 1.000 12 1983 2014
dbSNP: rs137852499
rs137852499
HPRT1
1 1.000 0.120 X 134473377 missense variant G/A snv 0.800 1.000 12 1983 2014
dbSNP: rs137852500
rs137852500
HPRT1
1 1.000 0.120 X 134475218 missense variant G/A snv 0.800 1.000 12 1983 2014
dbSNP: rs137852501
rs137852501
HPRT1
1 1.000 0.120 X 134475278 missense variant C/G snv 0.800 1.000 12 1983 2014
dbSNP: rs137852504
rs137852504
HPRT1
1 1.000 0.120 X 134498657 missense variant C/G snv 0.800 1.000 12 1983 2014
dbSNP: rs387906725
rs387906725
HPRT1
3 0.882 0.160 X 134475189 missense variant G/A snv 0.800 1.000 12 1983 2014
dbSNP: rs1228634091
rs1228634091
HPRT1
1 1.000 0.120 X 134475225 missense variant A/G snv 1.1E-05 0.700 1.000 12 1983 2014
dbSNP: rs137852489
rs137852489
HPRT1
2 0.925 0.160 X 134486471 stop gained C/A;T snv 2.4E-05 0.700 1.000 3 1990 1997
dbSNP: rs1556030169
rs1556030169
HPRT1
2 0.925 0.160 X 134498683 frameshift variant -/T delins 0.700 1.000 3 2000 2017
dbSNP: rs137852502
rs137852502
HPRT1
1 1.000 0.120 X 134475201 missense variant A/G snv 0.700 0
dbSNP: rs137852506
rs137852506
HPRT1
1 1.000 0.120 X 134475239 missense variant C/T snv 0.700 0
dbSNP: rs369065223
rs369065223
HPRT1
2 0.925 0.160 X 134486514 stop gained C/G;T snv 5.5E-06 0.700 0