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: rs11571316
rs11571316 		0.925 0.160 2 203866366 upstream gene variant G/A;C snv
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs11571317
rs11571317 		0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11571317
rs11571317 		0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11571317
rs11571317 		0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11571319
rs11571319 		2 203874215 downstream gene variant G/A snv 0.17
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1205829960
rs1205829960 		0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1205829960
rs1205829960 		0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0013884
Disease: Filarial Elephantiases
Filarial Elephantiases 		Infections; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
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 2019 2019