Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853275
rs878853275
1.000 X 154435762 missense variant G/A;T snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47
0.800 1.000 1 2016 2016
dbSNP: rs878853276
rs878853276
1.000 X 154432333 missense variant T/C snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47
0.800 1.000 1 2016 2016
dbSNP: rs878853277
rs878853277
1.000 X 154435338 missense variant G/A snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47
0.800 1.000 1 2016 2016
dbSNP: rs878853278
rs878853278
1.000 X 154435153 missense variant A/G snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47
0.800 1.000 1 2016 2016
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47
0.700 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis
0.700 1.000 1 2018 2018