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: rs11465702
rs11465702 		1.000 0.040 2 102441432 intron variant A/G snv 0.12
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs11681718
rs11681718 		1.000 0.080 2 102434684 non coding transcript exon variant A/G snv 0.22
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12997015
rs12997015 		2 102425941 intron variant A/G snv 1.8E-02
CUI: C4553157
Disease: Interleukin 1 Receptor-Like 1 Measurement
Interleukin 1 Receptor-Like 1 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1420106
rs1420106 		0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1420106
rs1420106 		0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1420106
rs1420106 		0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1420106
rs1420106 		0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1420106
rs1420106 		0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2310300
rs2310300 		1.000 0.080 2 102432614 intron variant A/G snv 0.55
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs34020101
rs34020101 		2 102435015 non coding transcript exon variant AA/-;A;AAA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs34020101
rs34020101 		2 102435015 non coding transcript exon variant AA/-;A;AAA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs3771156
rs3771156 		2 102420217 intron variant C/A;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13401597
rs13401597 		2 102444358 intron variant C/G snv 1.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2272127
rs2272127 		1.000 0.080 2 102423413 intron variant C/G snv 0.22
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2272127
rs2272127 		1.000 0.080 2 102423413 intron variant C/G snv 0.22
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2272127
rs2272127 		1.000 0.080 2 102423413 intron variant C/G snv 0.22
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10166330
rs10166330 		2 102433930 intron variant C/T snv 0.22
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2293223
rs2293223 		2 102419008 intron variant C/T snv 0.22
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2293225
rs2293225 		0.925 0.200 2 102419429 intron variant C/T snv 0.16
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2293225
rs2293225 		0.925 0.200 2 102419429 intron variant C/T snv 0.16
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2058660
rs2058660 		0.882 0.280 2 102437989 intron variant G/A snv 0.78
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 2 2010 2015
dbSNP: rs17027166
rs17027166 		2 102438960 non coding transcript exon variant G/A snv 0.26
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2058660
rs2058660 		0.882 0.280 2 102437989 intron variant G/A snv 0.78
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs2058660
rs2058660 		0.882 0.280 2 102437989 intron variant G/A snv 0.78
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2058660
rs2058660 		0.882 0.280 2 102437989 intron variant G/A snv 0.78
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