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: rs11161636
rs11161636 		1 85544565 intron variant A/G snv 0.51
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11587876
rs11587876 		1.000 0.080 1 85449500 intron variant T/C snv 0.21
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11806789
rs11806789 		1 85514149 intron variant T/C snv 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1498373
rs1498373 		0.882 0.120 1 85324950 intron variant G/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs233111
rs233111 		1.000 0.040 1 85319972 3 prime UTR variant T/C snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs233112
rs233112 		0.925 0.040 1 85320068 3 prime UTR variant T/C snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs233118
rs233118 		1.000 0.040 1 85322284 intron variant T/C snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2474121
rs2474121 		1.000 0.080 1 85332355 intron variant G/A;C snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs6697083
rs6697083 		1 85422092 intron variant A/T snv 0.62
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1241321
rs1241321 		1.000 0.080 1 85462196 intron variant A/G snv 0.32
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1378228
rs1378228 		1.000 0.160 1 85570890 intron variant G/C;T snv
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1498373
rs1498373 		0.882 0.120 1 85324950 intron variant G/A snv 0.28
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1498373
rs1498373 		0.882 0.120 1 85324950 intron variant G/A snv 0.28
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1498373
rs1498373 		0.882 0.120 1 85324950 intron variant G/A snv 0.28
CUI: C0729665
Disease: Arteriovenous graft
Arteriovenous graft 		0.010 1.000 1 2019 2019
dbSNP: rs17384213
rs17384213 		1 85418938 intron variant G/A snv 0.13
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs233112
rs233112 		0.925 0.040 1 85320068 3 prime UTR variant T/C snv 0.37
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs233112
rs233112 		0.925 0.040 1 85320068 3 prime UTR variant T/C snv 0.37
CUI: C0729665
Disease: Arteriovenous graft
Arteriovenous graft 		0.010 1.000 1 2019 2019
dbSNP: rs3087894
rs3087894 		1 85321435 3 prime UTR variant G/A;C snv 8.0E-06; 0.34
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs480414
rs480414 		1.000 0.080 1 85461780 intron variant G/A snv 0.31
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs480414
rs480414 		1.000 0.080 1 85461780 intron variant G/A snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6682848
rs6682848 		1.000 0.160 1 85572793 intron variant A/C snv 0.89
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014