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: 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: rs751798708
rs751798708
1.000 0.160 13 51958331 missense variant A/C snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
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: rs367855110
rs367855110
1.000 0.160 13 51949721 missense variant A/C snv 3.6E-05 7.0E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs772595172
rs772595172
1.000 0.160 13 51958360 missense variant A/C snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs374628199
rs374628199
1.000 0.160 13 51937663 missense variant A/C snv 4.0E-06 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 3 2008 2017
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: rs780811477
rs780811477
1.000 0.160 13 51935599 missense variant A/C;G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 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: 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: 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: rs1412025509
rs1412025509
1.000 0.160 13 51944224 missense variant A/G snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.810 1.000 23 1995 2017
dbSNP: rs1416453532
rs1416453532
1.000 0.160 13 51944281 missense variant A/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555285311
rs1555285311
1.000 0.160 13 51941131 missense variant A/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs560952220
rs560952220
1.000 0.160 13 51942493 missense variant A/G snv 2.0E-05 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.810 1.000 23 1995 2017
dbSNP: rs777791532
rs777791532
1.000 0.160 13 51946360 missense variant A/G snv 1.6E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1397083296
rs1397083296
1.000 0.160 13 51942518 missense variant A/G snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs377144951
rs377144951
1.000 0.160 13 51937383 missense variant A/G snv 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs770782111
rs770782111
1.000 0.160 13 51946357 missense variant A/G snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 20 1995 2015
dbSNP: rs186924074
rs186924074
1.000 0.160 13 51961861 missense variant A/G snv 4.9E-04 5.8E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 3 2008 2017
dbSNP: rs60431989
rs60431989
1.000 0.160 13 51941194 missense variant A/G snv 4.0E-05 3.5E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.810 1.000 3 1999 2017
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: rs1362773192
rs1362773192
1.000 0.160 13 51958432 missense variant A/G snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs749171049
rs749171049
1.000 0.160 13 51935614 missense variant A/G snv 8.1E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0
dbSNP: rs765667658
rs765667658
1.000 0.160 13 51958505 missense variant A/G snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 0