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: 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: 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: 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: 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: 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: 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: rs121908730
rs121908730 		1.000 20 44626598 missense variant C/A snv
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: 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: 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: 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: rs79281338
rs79281338 		1.000 20 44622905 missense variant C/A;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 6 2001 2019
dbSNP: rs778809577
rs778809577 		1.000 20 44622906 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 4 1995 2015
dbSNP: rs1057520217
rs1057520217 		1.000 20 44651601 stop gained G/A snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 3 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: rs1555844120
rs1555844120 		1.000 20 44622873 stop gained G/A snv
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 2 2007 2016
dbSNP: rs778343059
rs778343059 		1.000 20 44636226 splice donor variant C/G;T snv 8.2E-06
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.700 1.000 2 1994 2011
dbSNP: rs1555843178
rs1555843178 		1.000 20 44620297 splice donor variant A/T 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: 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: 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: rs751635016
rs751635016 		1.000 0.120 20 44622588 missense variant C/A;T snv 4.0E-06; 4.0E-06
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 2009 2009
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