ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: Symmetrical dyschromatosis of extremities ×
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: rs28936680
rs28936680 		1.000 0.080 1 154588668 missense variant A/G snv
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs28936681
rs28936681 		1.000 0.080 1 154584993 missense variant A/G snv
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs1044845711
rs1044845711 		1.000 0.080 1 154585024 missense variant G/A snv 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.720 1.000 2 2005 2013
dbSNP: rs121912421
rs121912421 		1.000 0.080 1 154601222 stop gained G/A snv 4.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.710 1.000 1 2013 2013
dbSNP: rs1557863734
rs1557863734 		0.925 0.080 1 154585314 frameshift variant T/- delins
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs779357448
rs779357448 		0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs121912422
rs121912422 		1.000 0.080 1 154588582 stop gained T/A snv
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912423
rs121912423 		1.000 0.080 1 154597125 stop gained G/A;C;T snv 4.8E-05
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs145588689
rs145588689 		0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906541
rs387906541 		1.000 0.080 1 154601700 frameshift variant AG/- delins
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122822
rs398122822 		0.925 0.080 1 154588125 missense variant C/T snv
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs17843865
rs17843865 		1.000 0.080 1 154598427 missense variant T/C snv 3.6E-03 1.0E-02
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs374300359
rs374300359 		1.000 0.080 1 154586307 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010