Disease: Ataxia Telangiectasia ×
Source: ALL
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: rs1555151854
rs1555151854 		1.000 0.200 11 108365387 frameshift variant -/TTCA ins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267606668
rs267606668 		1.000 0.200 11 108332848 missense variant TG/GC mnv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 10 1998 2016
dbSNP: rs587781353
rs587781353 		1.000 0.200 11 108345889 missense variant TG/AA mnv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 1996 2016
dbSNP: rs730881294
rs730881294 		1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 12 1998 2016
dbSNP: rs1555151928
rs1555151928 		1.000 0.200 11 108365410 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 9 1996 2016
dbSNP: rs786203489
rs786203489 		1.000 0.200 11 108365173 frameshift variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 1996 2016
dbSNP: rs758814126
rs758814126 		1.000 0.200 11 108354838 frameshift variant GAGAAACTCTC/- del 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 6 1998 2013
dbSNP: rs1555114545
rs1555114545 		1.000 0.200 11 108317371 splice acceptor variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064793042
rs1064793042 		1.000 0.200 11 108325491 frameshift variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555122030
rs1555122030 		1.000 0.200 11 108329072 frameshift variant AATGGAAAAAT/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752526400
rs752526400 		1.000 0.200 11 108345764 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs786204437
rs786204437 		1.000 0.200 11 108332905 splice region variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1057516599
rs1057516599 		1.000 0.200 11 108332853 frameshift variant A/- del 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1407907917
rs1407907917 		1.000 0.200 11 108326089 frameshift variant A/- del 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555113762
rs1555113762 		1.000 0.200 11 108316048 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555122092
rs1555122092 		1.000 0.200 11 108329117 frameshift variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555125223
rs1555125223 		1.000 0.200 11 108332769 frameshift variant C/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555125349
rs1555125349 		1.000 0.200 11 108332831 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565503198
rs1565503198 		1.000 0.200 11 108317454 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565520291
rs1565520291 		1.000 0.200 11 108326093 frameshift variant C/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565532554
rs1565532554 		1.000 0.200 11 108331536 frameshift variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565609008
rs1565609008 		1.000 0.200 11 108365374 frameshift variant CTAC/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587776550
rs587776550 		1.000 0.200 11 108333946 frameshift variant TTGT/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs796051856
rs796051856 		1.000 0.200 11 108329210 inframe deletion CTTAGG/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs876659569
rs876659569 		1.000 0.200 11 108326100 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0