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: rs4253772
rs4253772 		22 46231706 intron variant C/T snv 7.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs4253772
rs4253772 		22 46231706 intron variant C/T snv 7.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs4253624
rs4253624 		22 46155064 non coding transcript exon variant T/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253624
rs4253624 		22 46155064 non coding transcript exon variant T/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642 		22 46167520 intron variant A/G snv 7.1E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642 		22 46167520 intron variant A/G snv 7.1E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642 		22 46167520 intron variant A/G snv 7.1E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642 		22 46167520 intron variant A/G snv 7.1E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253642
rs4253642 		22 46167520 intron variant A/G snv 7.1E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4253755
rs4253755 		22 46219479 intron variant G/A snv 8.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4253755
rs4253755 		22 46219479 intron variant G/A snv 8.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4253772
rs4253772 		22 46231706 intron variant C/T snv 7.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9626814
rs9626814 		1.000 0.080 22 46241357 3 prime UTR variant G/A snv 0.19
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs1800206
rs1800206 		0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C1868414
Disease: HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.762 21 1997 2018
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.769 13 1997 2018
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.070 0.571 7 2001 2012
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 0.571 7 2001 2012
dbSNP: rs1800206
rs1800206 		0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 0.857 7 2000 2013
dbSNP: rs1800206
rs1800206 		0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.060 0.667 6 2001 2016
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.040 0.750 4 2010 2012
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.040 1.000 4 2001 2012
dbSNP: rs1800206
rs1800206 		0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2005 2007
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2012
dbSNP: rs1800206
rs1800206 		0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2004 2016