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: 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: 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: 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: 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: 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: 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
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: 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
dbSNP: rs751147673
rs751147673 		1.000 20 44626600 splice acceptor variant C/A;T snv 4.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 0
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: 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: 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: 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: 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
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