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: 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: 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: rs137853284
rs137853284
1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs137853285
rs137853285
1.000 0.160 13 51958538 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1394999756
rs1394999756
1.000 0.160 13 51958535 missense variant C/A;T snv 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1555283916
rs1555283916
1.000 0.160 13 51937579 missense variant T/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 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: rs1555285891
rs1555285891
1.000 0.160 13 51942514 missense variant T/C;G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1555286628
rs1555286628
1.000 0.160 13 51944266 missense variant G/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs1555291147
rs1555291147
1.000 0.160 13 51958372 missense variant T/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs199821556
rs199821556
1.000 0.160 13 51937493 missense variant C/T snv 2.0E-04 1.5E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs28942075
rs28942075
1.000 0.160 13 51958373 missense variant C/G;T snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs28942076
rs28942076
1.000 0.160 13 51949700 missense variant C/A;T snv 8.0E-06 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2019
dbSNP: rs371840514
rs371840514
1.000 0.160 13 51946291 missense variant G/A;T snv 5.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs372436901
rs372436901
1.000 0.160 13 51960300 missense variant T/C;G snv 4.0E-06; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs374094065
rs374094065
1.000 0.160 13 51944161 missense variant T/G snv 1.5E-04 9.1E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs376355660
rs376355660
1.000 0.160 13 51950117 missense variant C/G snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs540935874
rs540935874
1.000 0.160 13 51949775 missense variant C/G;T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs568009639
rs568009639
1.000 0.160 13 51939056 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs587783307
rs587783307
1.000 0.160 13 51946333 missense variant T/C;G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs587783309
rs587783309
1.000 0.160 13 51944164 missense variant G/A snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs587783317
rs587783317
1.000 0.160 13 51937276 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs587783318
rs587783318
1.000 0.160 13 51935678 missense variant C/T snv 1.2E-04 4.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs72552255
rs72552255
1.000 0.160 13 51946414 missense variant G/A snv 8.4E-05 1.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1995 2017
dbSNP: rs72552285
rs72552285
1.000 0.160 13 51961859 missense variant C/A;G;T snv 8.0E-06; 1.2E-05; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 23 1994 2017