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: rs10831234
rs10831234 		1.000 11 94500021 downstream gene variant C/T snv 0.11
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2019 2019
dbSNP: rs11020802
rs11020802 		0.882 0.080 11 94493959 upstream gene variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11020802
rs11020802 		0.882 0.080 11 94493959 upstream gene variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11020802
rs11020802 		0.882 0.080 11 94493959 upstream gene variant C/A;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs684507
rs684507 		0.925 0.080 11 94493185 intron variant G/A snv 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs684507
rs684507 		0.925 0.080 11 94493185 intron variant G/A snv 0.50
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1555018818
rs1555018818 		11 94492799 start lost C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587780138
rs587780138 		11 94490960 splice acceptor variant CATCACTATATT/- delins 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2011 2016
dbSNP: rs372068015
rs372068015 		1.000 0.200 11 94490909 missense variant A/G snv 2.0E-05
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555017290
rs1555017290 		11 94486085 splice acceptor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs951805101
rs951805101 		11 94486068 stop gained A/C snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1555017238
rs1555017238 		11 94486027 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs779269083
rs779269083 		11 94486009 stop gained C/A;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555017184
rs1555017184 		11 94485940 frameshift variant CTGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs748434421
rs748434421 		11 94485928 missense variant T/A snv 4.0E-06 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 0
dbSNP: rs876659145
rs876659145 		11 94479763 splice acceptor variant T/C snv 8.2E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs137852760
rs137852760 		0.925 0.200 11 94479726 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 1999 1999
dbSNP: rs137852760
rs137852760 		0.925 0.200 11 94479726 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555015413
rs1555015413 		11 94479671 splice donor variant TA/CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587782030
rs587782030 		11 94478771 stop gained G/A;T snv 3.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786202253
rs786202253 		11 94478768 frameshift variant TTTGAAGC/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1451215042
rs1451215042 		11 94476404 splice acceptor variant C/T snv 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs730881752
rs730881752 		11 94476320 frameshift variant AA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs137852763
rs137852763 		0.851 0.320 11 94476318 missense variant C/G snv
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2008 2008
dbSNP: rs137852763
rs137852763 		0.851 0.320 11 94476318 missense variant C/G snv
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.720 1.000 2 2008 2008