Source: ALL

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: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs121907990
rs121907990
ATP7B
0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.010 1.000 1 2018 2018
dbSNP: rs28942074
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.010 1.000 1 2018 2018
dbSNP: rs1801249
rs1801249
ATP7B
0.925 0.080 13 51941218 missense variant A/G;T snv 0.57
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 1.000 1 2013 2013
dbSNP: rs1061472
rs1061472
ATP7B
0.925 0.200 13 51950352 missense variant T/C;G snv 0.54
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2012 2013
dbSNP: rs732774
rs732774
ATP7B
0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2012 2013
dbSNP: rs2147363
rs2147363
ATP7B
0.925 0.200 13 51968660 intron variant T/G snv 0.69
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2013 2013
dbSNP: rs1801243
rs1801243
ATP7B
0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1801249
rs1801249
ATP7B
0.925 0.080 13 51941218 missense variant A/G;T snv 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.700 0
dbSNP: rs9535826
rs9535826
ATP7B
0.851 0.080 13 51991990 intron variant T/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs1801243
rs1801243
ATP7B
0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs732774
rs732774
ATP7B
0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.010 1.000 1 2019 2019
dbSNP: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.700 0
dbSNP: rs201497300
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.010 1.000 1 2019 2019
dbSNP: rs28942074
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0860016
Disease: Fulminant Wilson's disease
Fulminant Wilson's disease 		0.010 1.000 1 2020 2020
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2014 2014
dbSNP: rs28942074
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 0.984 64 1995 2020
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 1.000 56 1993 2019
dbSNP: rs137853284
rs137853284
ATP7B
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 48 1995 2017
dbSNP: rs121907993
rs121907993
ATP7B
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 46 1995 2017