ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
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: rs200930463
rs200930463 		1.000 0.080 22 17209538 missense variant C/A;G snv 4.8E-05; 6.0E-05
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 2 2014 2014
dbSNP: rs587777240
rs587777240 		1.000 0.080 22 17207287 missense variant G/T snv
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 2 2014 2014
dbSNP: rs587777241
rs587777241 		0.925 0.160 22 17207277 missense variant G/C snv 1.6E-05
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 2 2014 2014
dbSNP: rs587777242
rs587777242 		1.000 0.080 22 17191773 missense variant C/G snv
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 2 2014 2014
dbSNP: rs77563738
rs77563738 		1.000 0.080 22 17207107 missense variant C/G;T snv 4.0E-06; 4.7E-04
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.710 1.000 4 2014 2016
dbSNP: rs139750129
rs139750129 		1.000 0.080 22 17188449 splice acceptor variant T/C snv 1.2E-04 1.7E-04
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 3 2014 2017
dbSNP: rs202134424
rs202134424 		1.000 0.080 22 17209539 missense variant C/A;G;T snv 4.0E-06; 2.4E-05; 1.1E-04
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 3 2014 2018
dbSNP: rs376785840
rs376785840 		1.000 0.080 22 17181904 missense variant T/C snv 8.0E-05 7.0E-05
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 3 2014 2017
dbSNP: rs2231495
rs2231495 		22 17188416 missense variant T/A;C;G snv 8.0E-06; 0.34; 1.2E-05
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs148936893
rs148936893 		1.000 0.080 22 17203564 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2041144
rs2041144 		22 17242284 intron variant C/A;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5747035
rs5747035 		22 17237716 intron variant T/C snv 0.15
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2015 2015
dbSNP: rs775440641
rs775440641 		0.925 0.120 22 17188342 missense variant T/C snv 8.0E-06
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1226708979
rs1226708979 		1.000 0.080 22 17181993 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs146597836
rs146597836 		1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1568968051
rs1568968051 		1.000 0.080 22 17183874 intron variant T/- del
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777241
rs587777241 		0.925 0.160 22 17207277 missense variant G/C snv 1.6E-05
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs750868279
rs750868279 		1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs756881285
rs756881285 		0.882 0.160 22 17209534 frameshift variant C/-;CC delins
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs756881285
rs756881285 		0.882 0.160 22 17209534 frameshift variant C/-;CC delins
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs756881285
rs756881285 		0.882 0.160 22 17209534 frameshift variant C/-;CC delins
CUI: C0034150
Disease: Purpura
Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs756881285
rs756881285 		0.882 0.160 22 17209534 frameshift variant C/-;CC delins
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs770689762
rs770689762 		1.000 0.120 22 17182696 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome 		Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs775440641
rs775440641 		0.925 0.120 22 17188342 missense variant T/C snv 8.0E-06
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome 		Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1489114116
rs1489114116 		1.000 0.080 22 17182733 missense variant G/T snv 2.1E-05
CUI: C0343190
Disease: Cutaneous polyarteritis nodosa
Cutaneous polyarteritis nodosa 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015