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: rs121908723
rs121908723 		0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 18 1984 2016
dbSNP: rs121908726
rs121908726 		0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-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: 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: 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: rs121908715
rs121908715 		0.882 0.240 20 44620391 missense variant G/A snv 5.2E-05 2.0E-04
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 17 1984 2015
dbSNP: rs121908721
rs121908721 		0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-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: 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: 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: 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: 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: rs121908721
rs121908721 		0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.710 1.000 0 2019 2019
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: 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: 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: rs121908716
rs121908716 		0.925 0.160 20 44623053 missense variant C/T snv 7.2E-05 9.8E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 18 1984 2015
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: rs121908739
rs121908739 		0.925 0.160 20 44626498 missense variant A/G snv 7.2E-05 7.0E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 15 1984 2016
dbSNP: rs121908714
rs121908714 		0.925 0.160 20 44626516 missense variant C/A;G;T snv 4.0E-06; 8.0E-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: rs121908718
rs121908718 		0.925 0.160 20 44621103 missense variant G/A;T snv 8.0E-06; 2.8E-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: rs121908724
rs121908724 		0.925 0.160 20 44636264 missense variant C/T snv 7.0E-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: 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: rs387906267
rs387906267 		0.925 0.160 20 44626601 splice acceptor variant T/C snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 3 1987 2019
dbSNP: rs199422328
rs199422328 		0.925 0.160 20 44626597 missense variant C/A snv 8.0E-06 8.4E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 2 1996 1998
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: 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