Source: CURATED

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: rs1484840087
rs1484840087
ATP7B ; ALG11
1.000 0.160 13 52011759 intron variant GCGGTCTCGGCCACC/- delins 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 1999 2016
dbSNP: rs111871296
rs111871296
ATP7B ; ALG11
13 52012616 intron variant G/A snv 4.2E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs111871296
rs111871296
ATP7B ; ALG11
13 52012616 intron variant G/A snv 4.2E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs879255499
rs879255499
ATP7B ; ALG11
1.000 0.160 13 52011762 intron variant GTCTCGGCCACCTCG/- delins
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 1 1999 1999
dbSNP: rs137853279
rs137853279
ATP7B
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
ATP7B
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 12 1997 2019
dbSNP: rs193922109
rs193922109
ATP7B
1.000 0.160 13 51937342 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 12 1995 2013
dbSNP: rs572147914
rs572147914
ATP7B
1.000 0.160 13 51974407 stop gained G/A;T snv 1.9E-04; 9.7E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.720 1.000 7 1999 2016
dbSNP: rs786204578
rs786204578
ATP7B
1.000 0.160 13 51935666 stop gained G/A snv 4.1E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 7 2005 2013
dbSNP: rs753236073
rs753236073
ATP7B
1.000 0.160 13 51974906 stop gained G/A;T snv 2.4E-05; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 6 2000 2014
dbSNP: rs761084829
rs761084829
ATP7B
1.000 0.160 13 51974226 stop gained C/A;T snv 1.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 6 2011 2017
dbSNP: rs753250853
rs753250853
ATP7B
1.000 0.160 13 51942535 stop gained A/T snv 8.0E-06 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 5 2002 2013
dbSNP: rs778675259
rs778675259
ATP7B
1.000 0.160 13 51970565 stop gained G/T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 5 1998 2017
dbSNP: rs137853283
rs137853283
ATP7B
1.000 0.160 13 51958330 stop gained C/T snv 3.6E-05 9.1E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 4 1996 2013
dbSNP: rs1555291848
rs1555291848
ATP7B
1.000 0.160 13 51960231 stop gained G/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 4 2010 2016
dbSNP: rs774221179
rs774221179
ATP7B
1.000 0.160 13 51974889 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 4 1998 2013
dbSNP: rs1085307057
rs1085307057
ATP7B
1.000 0.160 13 51958517 stop gained G/A snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 2011 2013
dbSNP: rs121907999
rs121907999
ATP7B
1.000 0.160 13 51974355 stop gained G/A snv 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 1996 2013
dbSNP: rs1412593296
rs1412593296
ATP7B
1.000 0.160 13 51974658 stop gained G/A snv 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 2007 2015
dbSNP: rs751202110
rs751202110
ATP7B
1.000 0.160 13 51958521 stop gained G/A;C;T snv 1.1E-04; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 2007 2015
dbSNP: rs755584106
rs755584106
ATP7B
1.000 0.160 13 51935603 stop gained G/A;C;T snv 4.1E-06; 4.1E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 3 2011 2016
dbSNP: rs1474837260
rs1474837260
ATP7B
1.000 0.160 13 51960269 stop gained A/T snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 2 2010 2015
dbSNP: rs1555296472
rs1555296472
ATP7B
1.000 0.160 13 51974570 stop gained A/C snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 2 2008 2015
dbSNP: rs1566498495
rs1566498495
ATP7B
1.000 0.160 13 51949732 stop gained G/T snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 2 2004 2005
dbSNP: rs193922110
rs193922110
ATP7B
1.000 0.160 13 51935659 stop gained C/G;T snv 8.1E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 2 1999 2011