Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 1 2018 2018
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2018 2018
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2015 2015
dbSNP: rs597808
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018