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: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17366568
rs17366568 		0.851 0.200 3 186852664 non coding transcript exon variant G/A snv 8.8E-02
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 2 2010 2017
dbSNP: rs182052
rs182052 		0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs2241767
rs2241767 		0.763 0.440 3 186853407 intron variant A/G snv 0.10
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6773957
rs6773957 		1.000 0.040 3 186855916 3 prime UTR variant A/C;G snv 0.55
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2009 2009
dbSNP: rs121917815
rs121917815 		0.925 0.120 3 186854303 missense variant C/T snv 4.0E-06; 1.2E-05
CUI: C2675517
Disease: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 1.000 1 2000 2000
dbSNP: rs876661321
rs876661321 		3 186841714 upstream gene variant G/T snv
CUI: C2675517
Disease: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs822396
rs822396 		0.732 0.400 3 186849088 intron variant G/A snv 0.81
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs772365758
rs772365758 		1.000 0.080 3 186854228 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182052
rs182052 		0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs138227502
rs138227502 		0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs185847354
rs185847354 		0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs201989364
rs201989364 		0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74577862
rs74577862 		0.882 0.080 3 186843903 intron variant G/A snv 1.8E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2241766
rs2241766 		0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs138227502
rs138227502 		0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs185847354
rs185847354 		0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs201989364
rs201989364 		0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74577862
rs74577862 		0.882 0.080 3 186843903 intron variant G/A snv 1.8E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1501299
rs1501299 		0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2008 2013
dbSNP: rs266729
rs266729 		0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2019