rs76151636, ATP7B

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
349 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.900 1.000 56 1993 2019
Kayser-Fleischer ring
CUI: C0152457
Disease: Kayser-Fleischer ring
2 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.020 0.500 2 2001 2007
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2014 2014
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2014 2014
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
385 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2019 2019
Factor VII Deficiency
CUI: C0015503
Disease: Factor VII Deficiency
73 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2019 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2014 2014
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2014 2014
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2001 2001
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2019 2019