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: rs1061472
rs1061472
ATP7B
0.925 0.200 13 51950352 missense variant T/C;G snv 0.54
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2012 2012
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: rs1260868219
rs1260868219
ATP7B
1.000 0.160 13 51968520 missense variant T/G snv
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2011 2011
dbSNP: rs1277243795
rs1277243795
ATP7B
1.000 0.160 13 51937652 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2015 2015
dbSNP: rs1286080173
rs1286080173
ATP7B
0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2008 2008
dbSNP: rs1366026966
rs1366026966
ATP7B
1.000 0.040 13 51939100 missense variant A/T snv 7.0E-06
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2008 2008
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: 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: rs1801243
rs1801243
ATP7B
0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1801243
rs1801243
ATP7B
0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
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: 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: rs2147363
rs2147363
ATP7B
0.925 0.200 13 51968660 intron variant T/G snv 0.69
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2013 2013
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: 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: rs376910645
rs376910645
ATP7B
0.925 0.160 13 51944162 missense variant C/T snv 4.0E-06
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2008 2008
dbSNP: rs398123136
rs398123136
ATP7B
1.000 0.160 13 51958356 synonymous variant G/C snv 1.3E-04 4.9E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2008 2008
dbSNP: rs732774
rs732774
ATP7B
0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		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: rs749085322
rs749085322
ATP7B
0.925 0.160 13 51941132 missense variant T/C snv 4.0E-05 2.1E-05
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2008 2008
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: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.010 1.000 1 2019 2019
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: 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