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: rs587777685
rs587777685 		0.882 0.120 8 47820870 missense variant A/C snv
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 1.000 2 2009 2013
dbSNP: rs587777685
rs587777685 		0.882 0.120 8 47820870 missense variant A/C snv
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587777685
rs587777685 		0.882 0.120 8 47820870 missense variant A/C snv
CUI: C4016698
Disease: IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 0
dbSNP: rs2305952
rs2305952 		1.000 0.080 8 47962049 splice region variant A/G snv 9.9E-03 3.5E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7830743
rs7830743 		8 47798394 missense variant A/G snv 0.12 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs7830743
rs7830743 		8 47798394 missense variant A/G snv 0.12 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs8178097
rs8178097 		0.925 0.080 8 47888479 intron variant A/G snv 4.1E-02 3.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs8178097
rs8178097 		0.925 0.080 8 47888479 intron variant A/G snv 4.1E-02 3.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1563829725
rs1563829725 		1.000 0.040 8 47961514 splice acceptor variant A/G snv
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		Immune System Diseases 0.700 0
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0021603
Disease: Sleep Initiation and Maintenance Disorders
Sleep Initiation and Maintenance Disorders 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0023531
Disease: Leukoplakia
Leukoplakia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7003908
rs7003908 		0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010