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: rs587777686
rs587777686 		1.000 8 47789188 missense variant G/A snv
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.800 1.000 2 2009 2013
dbSNP: rs1231202
rs1231202 		0.925 0.080 8 47933959 splice region variant T/A;C snv 0.96
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1231202
rs1231202 		0.925 0.080 8 47933959 splice region variant T/A;C snv 0.96
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: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
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: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
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 2012 2012
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs937475913
rs937475913 		0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
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: 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: rs758032015
rs758032015 		1.000 0.040 8 47943872 missense variant C/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 0
dbSNP: rs781401034
rs781401034 		1.000 0.080 8 47898527 missense variant C/T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs55735910
rs55735910 		1.000 0.040 8 47881444 missense variant G/A snv 1.4E-05
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		Neoplasms 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: rs546905091
rs546905091 		1.000 8 47931497 intron variant TT/-;T;TTT;TTTT delins 4.1E-03
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 0
dbSNP: rs10504062
rs10504062 		8 47824663 intron variant T/C snv 2.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10504062
rs10504062 		8 47824663 intron variant T/C snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10504062
rs10504062 		8 47824663 intron variant T/C snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012