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: 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: rs121908740
rs121908740 		0.882 0.160 20 44623054 missense variant G/A snv 1.3E-04 7.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 13 1984 1998
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: rs1555844395
rs1555844395 		1.000 20 44624205 stop gained G/C snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 1 2015 2015
dbSNP: rs121908734
rs121908734 		1.000 20 44624212 missense variant T/C;G snv 4.1E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 11 1984 1998
dbSNP: rs121908727
rs121908727 		0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 11 1984 1998
dbSNP: rs886041796
rs886041796 		1.000 20 44624276 frameshift variant C/-;CC delins
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
dbSNP: rs121908719
rs121908719 		1.000 20 44624279 missense variant C/T snv 2.0E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 15 1984 2015
dbSNP: rs761242509
rs761242509 		0.925 0.160 20 44625568 splice donor variant C/T snv 2.1E-05 2.8E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 2 1995 2012
dbSNP: rs761242509
rs761242509 		0.925 0.160 20 44625568 splice donor variant C/T snv 2.1E-05 2.8E-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: rs121908722
rs121908722 		0.925 0.160 20 44625580 missense variant C/A;G;T snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 15 1984 2015
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: rs121908735
rs121908735 		0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 14 1984 2016
dbSNP: rs121908735
rs121908735 		0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 3 1998 2015
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: rs121908737
rs121908737 		1.000 20 44625601 missense variant C/T snv 6.3E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 11 1984 1998
dbSNP: rs121908733
rs121908733 		1.000 20 44625602 missense variant G/A;C;T snv 1.4E-05; 4.7E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 11 1984 1998
dbSNP: rs61732239
rs61732239 		1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs780014431
rs780014431 		0.925 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 5 1995 2015
dbSNP: rs121908732
rs121908732 		1.000 20 44625628 missense variant C/G;T snv 5.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 11 1984 1998
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: rs1555844617
rs1555844617 		0.925 0.120 20 44625650 frameshift variant -/T delins
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1555844617
rs1555844617 		0.925 0.120 20 44625650 frameshift variant -/T delins
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 1 2011 2011
dbSNP: rs121908731
rs121908731 		1.000 20 44625662 missense variant C/A;T snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 14 1984 2015
dbSNP: rs749484894
rs749484894 		1.000 20 44626468 stop gained C/T snv 1.6E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0