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: 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: 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: 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: 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: 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: rs137853279
rs137853279
1.000 0.160 13 51941111 stop gained C/A;T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 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: 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: 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: rs1555282678
rs1555282678
1.000 0.160 13 51935611 missense variant G/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555282751
rs1555282751
1.000 0.160 13 51935654 missense variant C/T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 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: rs1555283946
rs1555283946
1.000 0.160 13 51937612 missense variant T/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555284582
rs1555284582
1.000 0.160 13 51939112 missense variant C/A 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: 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: rs1555285911
rs1555285911
1.000 0.160 13 51942532 missense variant C/T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555286478
rs1555286478
1.000 0.160 13 51944149 missense variant T/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555286620
rs1555286620
1.000 0.160 13 51944255 missense variant T/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 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