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: rs121434216
rs121434216 		0.925 0.200 11 108345804 missense variant T/G snv
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 0.800 1.000 23 1995 2017
dbSNP: rs121434218
rs121434218 		0.925 0.200 11 108333925 missense variant T/C;G snv
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 22 1995 2017
dbSNP: rs1555114558
rs1555114558 		1.000 0.200 11 108317377 missense variant T/C snv
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 22 1995 2017
dbSNP: rs587781302
rs587781302 		1.000 0.200 11 108315863 missense variant A/G;T snv
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 0.800 1.000 22 1995 2017
dbSNP: rs876659365
rs876659365 		1.000 0.200 11 108330314 missense variant T/G snv
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 0.800 1.000 22 1995 2017
dbSNP: rs876659735
rs876659735 		1.000 0.200 11 108335063 missense variant T/G snv 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 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927 		1.000 0.200 11 108345795 missense variant G/A;C snv
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 22 1995 2017
dbSNP: rs587780645
rs587780645 		1.000 0.200 11 108365415 frameshift variant -/A delins
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 1996 2016
dbSNP: rs730881386
rs730881386 		1.000 0.200 11 108365324 splice acceptor variant G/A;C snv
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 1996 2017
dbSNP: rs564652222
rs564652222 		0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-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 0.800 1.000 11 2003 2014
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: rs564652222
rs564652222 		0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1999 2013
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: rs876660022
rs876660022 		1.000 0.200 11 108365336 frameshift variant AG/- delins
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: rs587781299
rs587781299 		0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1998 2016
dbSNP: rs587781905
rs587781905 		1.000 0.200 11 108331442 splice region variant GAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1996 2011
dbSNP: rs730881295
rs730881295 		1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1996 2017
dbSNP: rs786202800
rs786202800 		1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1998 2017
dbSNP: rs267606668
rs267606668 		1.000 0.200 11 108332848 missense variant TG/GC mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1998 2013
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: rs587781905
rs587781905 		1.000 0.200 11 108331442 splice region variant GAGA/- delins
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 2011
dbSNP: rs786202800
rs786202800 		1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins
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 1998 2017
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: rs587781299
rs587781299 		0.925 0.280 11 108327665 frameshift variant -/A delins
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 2016
dbSNP: rs587781363
rs587781363 		1.000 0.200 11 108345797 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1997 2015