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: rs196941
rs196941 		0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs196941
rs196941 		0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs196941
rs196941 		0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs196941
rs196941 		0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs196941
rs196941 		0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1279653488
rs1279653488 		1.000 0.040 17 64047898 missense variant G/A snv 7.0E-06
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 0
dbSNP: rs1397145500
rs1397145500 		1.000 0.120 17 64066782 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs146710304
rs146710304 		1.000 0.080 17 64054300 missense variant G/A;T snv 1.6E-05 1.4E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs186305118
rs186305118 		1.000 0.040 17 64055926 missense variant A/C snv 1.0E-02; 6.8E-06 1.0E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 0
dbSNP: rs199650082
rs199650082 		1.000 0.080 17 64044166 missense variant C/G;T snv 4.4E-06; 4.9E-04
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2017 2017