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: rs6498114
rs6498114 		1.000 0.080 16 10870261 intron variant G/T snv 0.78
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.780 0.625 8 2006 2012
dbSNP: rs12325238
rs12325238 		16 10887661 intron variant C/A;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs372826934
rs372826934 		1.000 0.120 16 10910260 splice donor variant G/A snv 8.0E-06 2.8E-05
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 1 1993 1993
dbSNP: rs6498114
rs6498114 		1.000 0.080 16 10870261 intron variant G/T snv 0.78
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852602
rs137852602 		1.000 0.120 16 10906633 stop gained G/T snv
CUI: C1859534
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group A
Bare Lymphocyte Syndrome, Type II, Complementation Group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1555507411
rs1555507411 		1.000 0.120 16 10915570 splice donor variant CTGGGCCCTGTCTCAGGCCCCCAGGCTTTCCCCAAACTGGTGCGGATCCTCACGGCCTTTTCCTCCCTGCAGCATCTGGAG/- delins
CUI: C1859534
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group A
Bare Lymphocyte Syndrome, Type II, Complementation Group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs771073292
rs771073292 		1.000 0.120 16 10922491 splice donor variant G/A snv 1.2E-05 7.0E-06
CUI: C1859534
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group A
Bare Lymphocyte Syndrome, Type II, Complementation Group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs863223293
rs863223293 		1.000 0.120 16 10907555 stop gained G/A snv
CUI: C1859534
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group A
Bare Lymphocyte Syndrome, Type II, Complementation Group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.040 1.000 4 2006 2010
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.030 0.667 3 2006 2012
dbSNP: rs4774
rs4774 		0.807 0.240 16 10906991 missense variant G/C snv 0.30 0.28
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2010 2014
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2007 2010
dbSNP: rs4774
rs4774 		0.807 0.240 16 10906991 missense variant G/C snv 0.30 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2012 2016
dbSNP: rs11074932
rs11074932 		1.000 0.120 16 10874479 intron variant T/A;C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11074938
rs11074938 		0.925 0.240 16 10912686 intron variant A/G snv 0.56
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11074938
rs11074938 		0.925 0.240 16 10912686 intron variant A/G snv 0.56
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12932187
rs12932187 		0.925 0.320 16 10878023 intron variant C/G;T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12932187
rs12932187 		0.925 0.320 16 10878023 intron variant C/G;T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs151317882
rs151317882 		1.000 0.040 16 10901533 synonymous variant G/A;C snv 2.6E-04; 4.0E-06
CUI: C0019340
Disease: Herpes NOS
Herpes NOS 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0263314
Disease: Pemphigus and fogo selvagem
Pemphigus and fogo selvagem 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs3087456
rs3087456 		0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006