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: rs1052693
rs1052693 		6 30908375 5 prime UTR variant C/T snv 0.25
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.800 1.000 1 2012 2012
dbSNP: rs3130780
rs3130780 		1.000 0.080 6 30906531 upstream gene variant T/G snv 0.77
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs3218822
rs3218822 		1.000 0.040 6 30912559 intron variant T/C snv 1.9E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs886420
rs886420 		1.000 0.040 6 30911859 non coding transcript exon variant C/T snv 7.2E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1264307
rs1264307 		1.000 0.240 6 30912980 intron variant G/A snv 0.28
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1264308
rs1264308 		0.925 0.080 6 30912210 non coding transcript exon variant C/T snv 7.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1264308
rs1264308 		0.925 0.080 6 30912210 non coding transcript exon variant C/T snv 7.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs750323550
rs750323550 		0.925 0.240 6 30909503 missense variant C/T snv
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs750323550
rs750323550 		0.925 0.240 6 30909503 missense variant C/T snv
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999