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: rs11220462
rs11220462 		11 126374057 intron variant G/A snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs11220462
rs11220462 		11 126374057 intron variant G/A snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2018
dbSNP: rs2236653
rs2236653 		11 126413890 intron variant C/T snv 0.45
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs4935969
rs4935969 		11 126426694 intron variant C/T snv 0.37
CUI: C0018498
Disease: Hair Color
Hair Color 		0.800 1.000 1 2010 2010
dbSNP: rs11220462
rs11220462 		11 126374057 intron variant G/A snv 0.12
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs11220463
rs11220463 		11 126378316 intron variant A/T snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2016 2018
dbSNP: rs11220463
rs11220463 		11 126378316 intron variant A/T snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2016 2018
dbSNP: rs4307732
rs4307732 		11 126375060 non coding transcript exon variant G/A snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs4307732
rs4307732 		11 126375060 non coding transcript exon variant G/A snv 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs76970536
rs76970536 		11 126380785 intron variant G/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs1057519593
rs1057519593 		1.000 0.160 11 126424898 missense variant C/A;T snv
CUI: C2675487
Disease: Mental Retardation, Autosomal Dominant 4
Mental Retardation, Autosomal Dominant 4 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2008 2008
dbSNP: rs10893499
rs10893499 		11 126372084 intron variant G/A snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10893499
rs10893499 		11 126372084 intron variant G/A snv 0.16
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10893506
rs10893506 		0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11220463
rs11220463 		11 126378316 intron variant A/T snv 0.12
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11220465
rs11220465 		11 126387884 intron variant G/A snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11220471
rs11220471 		11 126396770 intron variant A/G snv 0.29
CUI: C4722217
Disease: E-selectin Measurement
E-selectin Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11220486
rs11220486 		1.000 0.080 11 126421126 intron variant G/A snv 0.19
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs142029184
rs142029184 		11 126401713 intron variant G/A snv 1.1E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs35099186
rs35099186 		1.000 0.040 11 126384371 intron variant T/C snv 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs35458154
rs35458154 		11 126426930 intron variant G/A snv 1.3E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs35458154
rs35458154 		11 126426930 intron variant G/A snv 1.3E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs3862628
rs3862628 		11 126373017 intron variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4055121
rs4055121 		11 126362442 intron variant C/T snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4937127
rs4937127 		11 126420615 intron variant A/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016