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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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