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: 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: 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: 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: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0152457
Disease: Kayser-Fleischer ring
Kayser-Fleischer ring 		0.020 0.500 2 2001 2007
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
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 1.000 1 2001 2001
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: 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: rs732774
rs732774
ATP7B
0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.030 1.000 3 2012 2019
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: 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: 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: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 7 1997 2014
dbSNP: rs28942074
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.020 1.000 2 2019 2020
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: 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