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: rs11706832
rs11706832 		1.000 0.040 3 66452557 intron variant A/C;G snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.710 1.000 2 2017 2018
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481 		0.790 0.080 3 66392011 intron variant C/G snv 0.66
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2015 2019
dbSNP: rs11706832
rs11706832 		1.000 0.040 3 66452557 intron variant A/C;G snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs13078828
rs13078828 		3 66429063 intron variant G/A snv 2.7E-02
CUI: C0201278
Disease: Antibody measurement (procedure)
Antibody measurement (procedure) 		0.700 1.000 1 2013 2013
dbSNP: rs2242285
rs2242285 		3 66381178 intron variant A/C;G snv
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs2242285
rs2242285 		3 66381178 intron variant A/C;G snv
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		0.700 1.000 1 2010 2010
dbSNP: rs34080181
rs34080181 		1.000 0.080 3 66403767 intron variant G/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3965156
rs3965156 		3 66434532 intron variant A/C;T snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs6147862
rs6147862 		3 66402550 intron variant GCATGGTGGGAAGGACCCAAGGT/-;GCATGGTGGGAAGGACCCAAGGTGCATGGTGGGAAGGACCCAAGGT delins 0.60
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs6147862
rs6147862 		3 66402550 intron variant GCATGGTGGGAAGGACCCAAGGT/-;GCATGGTGGGAAGGACCCAAGGTGCATGGTGGGAAGGACCCAAGGT delins 0.60
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs6549120
rs6549120 		3 66457018 intron variant A/G snv 0.57
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs9827908
rs9827908 		1.000 3 66395177 intron variant A/G snv 5.2E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908 		1.000 3 66395177 intron variant A/G snv 5.2E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908 		1.000 3 66395177 intron variant A/G snv 5.2E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908 		1.000 3 66395177 intron variant A/G snv 5.2E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908 		1.000 3 66395177 intron variant A/G snv 5.2E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs147372871
rs147372871 		1.000 0.080 3 66386050 missense variant G/A;T snv 2.9E-04; 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018