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: rs1038582488
rs1038582488
1.000 0.160 13 51946405 missense variant C/T snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1052485948
rs1052485948
1.000 0.160 13 51949764 missense variant A/C;G;T snv 4.0E-06; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs1057517310
rs1057517310
1.000 0.160 13 51949710 missense variant C/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 3 2007 2017
dbSNP: rs1057520235
rs1057520235
1.000 0.160 13 51950277 missense variant A/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1131691741
rs1131691741
1.000 0.160 13 51937305 missense variant T/G snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs1160679283
rs1160679283
1.000 0.160 13 51935660 missense variant A/G snv 4.1E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs1169959260
rs1169959260
1.000 0.160 13 51949681 missense variant A/C snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs1173050016
rs1173050016
1.000 0.160 13 51964924 missense variant A/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs1206016866
rs1206016866
1.000 0.160 13 51944131 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs1212479289
rs1212479289
1.000 0.160 13 51960191 missense variant G/C;T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1213481140
rs1213481140
1.000 0.160 13 51941201 missense variant C/T snv 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1217463955
rs1217463955
1.000 0.160 13 51958340 missense variant G/C snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs121907990
rs121907990
0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.820 1.000 23 1993 2018
dbSNP: rs121907992
rs121907992
1.000 0.160 13 51937583 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs121907993
rs121907993
1.000 0.160 13 51949772 missense variant G/A;C;T snv 6.0E-05; 2.8E-05; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs121907994
rs121907994
1.000 0.160 13 51950116 missense variant G/A snv 6.8E-05 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.810 1.000 23 1995 2017
dbSNP: rs121907996
rs121907996
1.000 0.160 13 51946438 missense variant C/T snv 3.6E-05 5.6E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs121907997
rs121907997
1.000 0.160 13 51958369 missense variant G/A;C snv 3.6E-05; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs121907998
rs121907998
1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs121908000
rs121908000
1.000 0.160 13 51958543 missense variant A/G snv 4.9E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.820 1.000 23 1995 2017
dbSNP: rs121908001
rs121908001
1.000 0.160 13 51960198 missense variant C/T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1230241288
rs1230241288
1.000 0.160 13 51949765 missense variant C/T snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs1282624946
rs1282624946
1.000 0.160 13 51970579 missense variant C/A snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs1286080173
rs1286080173
0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1314712150
rs1314712150
1.000 0.160 13 51937577 missense variant C/T snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0