ADA, adenosine deaminase, 100

N. diseases: 18; N. variants: 57
Source: CURATED ×
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: rs114025668
rs114025668 		1.000 20 44623042 missense variant C/T snv 9.9E-05 2.9E-04
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs1194494050
rs1194494050 		1.000 0.160 20 44620435 non coding transcript exon variant C/T snv 4.0E-06
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908714
rs121908714 		0.925 0.160 20 44626516 missense variant C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908715
rs121908715 		0.882 0.240 20 44620391 missense variant G/A snv 5.2E-05 2.0E-04
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908716
rs121908716 		0.925 0.160 20 44623053 missense variant C/T snv 7.2E-05 9.8E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908718
rs121908718 		0.925 0.160 20 44621103 missense variant G/A;T snv 8.0E-06; 2.8E-05
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908721
rs121908721 		0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908722
rs121908722 		0.925 0.160 20 44625580 missense variant C/A;G;T snv
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908723
rs121908723 		0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908729
rs121908729 		1.000 0.160 20 44622911 missense variant G/A snv
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908735
rs121908735 		0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908739
rs121908739 		0.925 0.160 20 44626498 missense variant A/G snv 7.2E-05 7.0E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908740
rs121908740 		0.882 0.160 20 44623054 missense variant G/A snv 1.3E-04 7.0E-06
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1452483770
rs1452483770 		1.000 20 44626507 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs1555844006
rs1555844006 		1.000 20 44622643 frameshift variant A/- del
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs1555844616
rs1555844616 		1.000 20 44625642 frameshift variant -/TGGCCCACTAGGGCCACCACCT delins
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs1555845120
rs1555845120 		1.000 20 44629045 splice donor variant A/C snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs199422327
rs199422327 		1.000 0.160 20 44621082 missense variant A/C snv 4.4E-05 2.1E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422328
rs199422328 		0.925 0.160 20 44626597 missense variant C/A snv 8.0E-06 8.4E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606634
rs267606634 		1.000 20 44626528 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs267606635
rs267606635 		1.000 20 44626502 missense variant G/C snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs387906267
rs387906267 		0.925 0.160 20 44626601 splice acceptor variant T/C snv
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906268
rs387906268 		1.000 0.160 20 44619862 intron variant A/T snv
CUI: C1863239
Disease: Partial adenosine deaminase deficiency
Partial adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs528390681
rs528390681 		1.000 20 44629046 splice donor variant C/T snv 1.2E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs587776534
rs587776534 		1.000 0.160 20 44651574 splice donor variant C/G snv
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0