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: rs11030003
rs11030003 		11 27434035 intron variant C/T snv 0.71
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs4536164
rs4536164 		11 27445562 intron variant A/C snv 0.70
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs58604758
rs58604758 		11 27398598 intron variant G/A snv 8.2E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs78321654
rs78321654 		1.000 0.080 11 27431772 intron variant T/A;C snv 5.2E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587777005
rs587777005 		0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05
CUI: C3714987
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 		0.700 0
dbSNP: rs149204548
rs149204548 		1.000 0.080 11 27368475 missense variant C/T snv 1.6E-03 4.5E-04
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587777005
rs587777005 		0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2013 2013
dbSNP: rs587777005
rs587777005 		0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs587777005
rs587777005 		0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013