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: rs283413
rs283413
ADH1B ; ADH1C
0.925 0.080 4 99347033 stop gained C/A;T snv
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		0.700 0
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.800 1.000 1 2011 2011
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.750 1.000 1 2009 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.710 1.000 1 2014 2019
dbSNP: rs1614972
rs1614972
ADH1B ; ADH1C
0.925 0.160 4 99336998 intron variant C/T snv 0.38
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.710 1.000 1 2013 2014
dbSNP: rs2173201
rs2173201
ADH1B
1.000 0.080 4 99329813 intron variant C/A snv 0.30
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.710 1.000 1 2014 2014
dbSNP: rs1154433
rs1154433
ADH1B
1.000 0.080 4 99332551 intron variant A/G;T snv
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.700 1.000 1 2019 2019
dbSNP: rs1154433
rs1154433
ADH1B
1.000 0.080 4 99332551 intron variant A/G;T snv
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs1154433
rs1154433
ADH1B
1.000 0.080 4 99332551 intron variant A/G;T snv
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C3165521
Disease: Primary malignant neoplasm of lateral wall of oropharynx
Primary malignant neoplasm of lateral wall of oropharynx 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153390
Disease: Malignant neoplasm of posterior wall of oropharynx
Malignant neoplasm of posterior wall of oropharynx 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0496758
Disease: Malignant neoplasm of lateral floor of mouth
Malignant neoplasm of lateral floor of mouth 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153389
Disease: malignant neoplasm of lateral wall of oropharynx
malignant neoplasm of lateral wall of oropharynx 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153380
Disease: Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of other specified parts of mouth 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0153407
Disease: Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of other sites within the lip and oral cavity 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0031347
Disease: Pharyngeal Neoplasms
Pharyngeal Neoplasms 		0.700 1.000 1 2016 2016