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: rs11618508
rs11618508 		13 111197140 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1213242722
rs1213242722 		1.000 0.040 13 111267603 missense variant A/G snv 3.2E-05 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2007 2016
dbSNP: rs1400205549
rs1400205549 		1.000 0.040 13 111267594 missense variant A/G snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2007 2016
dbSNP: rs748086058
rs748086058 		1.000 0.080 13 111115619 synonymous variant G/A;C snv 5.7E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2008 2009
dbSNP: rs755836362
rs755836362 		1.000 0.080 13 111267576 frameshift variant G/- delins
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2008 2009
dbSNP: rs1164509546
rs1164509546 		1.000 0.040 13 111286234 missense variant C/T snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1252641479
rs1252641479 		1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1252641479
rs1252641479 		1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1445362103
rs1445362103 		1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1445362103
rs1445362103 		1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2000 2000
dbSNP: rs759442241
rs759442241 		0.925 0.080 13 111274731 missense variant G/A snv 5.5E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs759442241
rs759442241 		0.925 0.080 13 111274731 missense variant G/A snv 5.5E-06
CUI: C0865274
Disease: High-oxygen-affinity hemoglobin
High-oxygen-affinity hemoglobin 		0.010 1.000 1 1992 1992
dbSNP: rs767667465
rs767667465 		1.000 0.080 13 111300832 missense variant C/A;G;T snv 1.2E-05; 8.1E-06
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 2003 2003
dbSNP: rs768007422
rs768007422 		1.000 0.040 13 111277667 missense variant C/G snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs772912273
rs772912273 		1.000 0.080 13 111209877 missense variant G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774347347
rs774347347 		0.925 0.200 13 111244264 missense variant T/C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774347347
rs774347347 		0.925 0.200 13 111244264 missense variant T/C snv 4.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs779735456
rs779735456 		0.925 0.080 13 111275610 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs779735456
rs779735456 		0.925 0.080 13 111275610 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0865274
Disease: High-oxygen-affinity hemoglobin
High-oxygen-affinity hemoglobin 		0.010 1.000 1 1992 1992