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: rs501108
rs501108 		1 20509143 upstream gene variant A/G snv 0.38
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1315538274
rs1315538274 		1.000 0.040 1 20503285 missense variant C/T snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1334828551
rs1334828551 		1 20500800 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1334828551
rs1334828551 		1 20500800 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs148047459
rs148047459 		0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs148047459
rs148047459 		0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs529974
rs529974 		1.000 0.040 1 20500417 3 prime UTR variant G/A snv 0.31
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs767543501
rs767543501 		1 20502133 missense variant C/A;G snv 4.0E-06; 1.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs767543501
rs767543501 		1 20502133 missense variant C/A;G snv 4.0E-06; 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs767543501
rs767543501 		1 20502133 missense variant C/A;G snv 4.0E-06; 1.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs935042911
rs935042911 		1.000 0.040 1 20500848 missense variant C/G;T snv 1.2E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs986952349
rs986952349 		1.000 0.040 1 20507924 missense variant C/G;T snv 1.4E-05 2.8E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016