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: rs12734338
rs12734338 		0.925 0.120 1 202500595 intron variant T/C snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs12734338
rs12734338 		0.925 0.120 1 202500595 intron variant T/C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 1 2013 2013
dbSNP: rs12734001
rs12734001 		1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12734001
rs12734001 		1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12739262
rs12739262 		1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs12739262
rs12739262 		1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12739262
rs12739262 		1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2012 2012
dbSNP: rs3817222
rs3817222 		1.000 0.080 1 202495632 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011