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: 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: 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: 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: 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: rs1423701688
rs1423701688
1.000 0.160 13 51944144 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1487547257
rs1487547257
1.000 0.160 13 51946399 missense variant G/A snv 7.0E-06
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: 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: 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: rs1555288410
rs1555288410
1.000 0.160 13 51949730 missense variant T/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs1555291809
rs1555291809
1.000 0.160 13 51960200 missense variant G/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs181250704
rs181250704
1.000 0.160 13 51935019 missense variant G/A snv 1.1E-03 1.5E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs200728096
rs200728096
1.000 0.160 13 51961868 missense variant G/A snv 5.6E-05 1.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs201061621
rs201061621
1.000 0.160 13 51946423 missense variant G/A;C;T snv 1.4E-04; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs368589213
rs368589213
1.000 0.160 13 51950367 missense variant C/A;G;T snv 4.0E-06; 1.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs373748155
rs373748155
1.000 0.160 13 51937516 missense variant G/A;C snv 8.0E-06 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs557577836
rs557577836
1.000 0.160 13 51974814 missense variant T/A;C snv 6.8E-05; 3.1E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs572122562
rs572122562
1.000 0.160 13 51968535 missense variant G/A snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs587783315
rs587783315
1.000 0.160 13 51941089 missense variant G/A;C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs755202606
rs755202606
1.000 0.160 13 51937537 missense variant C/G;T snv 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017
dbSNP: rs761147984
rs761147984
1.000 0.160 13 51944246 missense variant C/T snv 8.8E-05 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.700 1.000 23 1995 2017