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: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 < 0.001 2 2009 2015
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
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 < 0.001 1 2009 2009
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1239470707
rs1239470707 		0.925 0.120 3 12416785 missense variant C/A snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3856806
rs3856806 		0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs13306747
rs13306747 		0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.040 0.750 4 2011 2017
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.060 0.500 6 2005 2015
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.050 0.600 5 2005 2015
dbSNP: rs1151999
rs1151999 		1.000 0.080 3 12405654 intron variant G/T snv 0.61
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4135263
rs4135263 		1.000 0.080 3 12381767 intron variant T/C snv 0.14
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs709149
rs709149 		1.000 0.080 3 12408855 intron variant G/A;T snv 0.30
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs709154
rs709154 		0.925 0.200 3 12415335 intron variant A/T snv 0.28
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1801282
rs1801282 		0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2003 2014
dbSNP: rs1805192
rs1805192 		0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2003 2014
dbSNP: rs1440763451
rs1440763451 		0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016