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: 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: rs191312027
rs191312027
1.000 0.160 13 51950132 stop gained C/A;T snv 4.0E-06; 6.9E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.800 1.000 0 1997 2019
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: 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: 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: 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: 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