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: rs121908736
rs121908736 		1.000 20 44626592 missense variant G/A snv 2.8E-04 8.0E-04
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: 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: 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: 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: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.800 1.000 18 1984 2015
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: rs771266745
rs771266745 		1.000 20 44621033 frameshift variant TCTTC/-;TCTTCTCTTC delins 9.1E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 4 1993 2016
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: 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: 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: 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: rs121908738
rs121908738 		1.000 20 44622612 missense variant G/A snv 4.4E-05 7.0E-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: 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: 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: 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: 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: rs757796081
rs757796081 		1.000 20 44622647 splice acceptor variant -/CCAGA delins 2.8E-05
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: rs121908717
rs121908717 		1.000 20 44626517 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 		0.700 1.000 11 1984 1998
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: rs121908725
rs121908725 		1.000 20 44636279 missense variant G/C snv 8.3E-06 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 2015
dbSNP: rs766590645
rs766590645 		1.000 20 44622587 splice donor variant C/G snv 4.0E-06 1.4E-05
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0