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: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 0.923 13 1998 2017
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.090 0.889 9 2001 2017
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.080 1.000 8 1997 2013
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.060 0.833 6 2004 2013
dbSNP: rs3869062
rs3869062 		1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.720 1.000 5 2009 2017
dbSNP: rs2517713
rs2517713 		1.000 0.120 6 29950322 downstream gene variant G/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 4 2009 2015
dbSNP: rs199474387
rs199474387 		0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 1998 2002
dbSNP: rs2860580
rs2860580 		1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.720 1.000 3 2010 2017
dbSNP: rs5009448
rs5009448 		1.000 0.120 6 29972711 upstream gene variant T/C snv 0.74
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2009 2012
dbSNP: rs9260734
rs9260734 		1.000 0.120 6 29964889 intergenic variant G/A snv 0.22
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2009 2012
dbSNP: rs111312615
rs111312615 		1.000 0.040 6 29955302 upstream gene variant T/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs12206499
rs12206499 		1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.020 1.000 2 2004 2005
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0162539
Disease: IgG Deficiency disorder
IgG Deficiency disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2004 2005
dbSNP: rs1275561861
rs1275561861 		0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2013
dbSNP: rs199474387
rs199474387 		0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1998 2002
dbSNP: rs199474387
rs199474387 		0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1998 2002
dbSNP: rs2523946
rs2523946 		0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs2523946
rs2523946 		0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 1.000 2 2011 2015
dbSNP: rs2860580
rs2860580 		1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2010 2016
dbSNP: rs3132685
rs3132685 		0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2009 2012
dbSNP: rs417162
rs417162 		1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2009 2012
dbSNP: rs1061535
rs1061535 		6 29970147 upstream gene variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1061539
rs1061539 		1.000 0.040 6 29969778 downstream gene variant T/A;C snv
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1061539
rs1061539 		1.000 0.040 6 29969778 downstream gene variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012