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: rs121907946
rs121907946 		1.000 0.040 6 53507001 missense variant T/A;C snv
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		Hemic and Lymphatic Diseases 0.800 1.000 3 1999 2003
dbSNP: rs760031222
rs760031222 		1.000 0.040 6 53520845 missense variant G/A snv 4.0E-06
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2003
dbSNP: rs534957
rs534957 		1.000 0.040 6 53541553 intron variant G/C snv 0.39
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2019
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17883901
rs17883901 		0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		Digestive System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1883633
rs1883633 		0.925 0.080 6 53564474 intron variant A/G snv 0.14
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1883633
rs1883633 		0.925 0.080 6 53564474 intron variant A/G snv 0.14
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3736729
rs3736729 		0.925 0.080 6 53514607 intron variant A/C snv 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3736729
rs3736729 		0.925 0.080 6 53514607 intron variant A/C snv 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs761142
rs761142 		1.000 0.040 6 53527310 intron variant A/C snv 0.33
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids 		Infections 0.010 1.000 1 2012 2012