rs1557196978, ATP6AP1

N. diseases: 8
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.
Abnormality of copper homeostasis
CUI: C4023689
Disease: Abnormality of copper homeostasis
2 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Abnormality of the immune system
CUI: C4021753
Disease: Abnormality of the immune system
3 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
5 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
IMMUNODEFICIENCY 47
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
5 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018