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: 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: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.800 1.000 1 2011 2011
dbSNP: rs1042026
rs1042026
ADH1B
1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.800 1.000 2 2010 2012
dbSNP: rs17033
rs17033
ADH1B
0.925 0.080 4 99307788 3 prime UTR variant T/C snv 9.6E-02
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.700 1.000 1 2012 2012
dbSNP: rs12639833
rs12639833
ADH1B ; ADH1C
1.000 0.080 4 99346215 intron variant C/T snv 0.31
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs12639833
rs12639833
ADH1B ; ADH1C
1.000 0.080 4 99346215 intron variant C/T snv 0.31
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.700 1.000 1 2014 2014
dbSNP: rs12639833
rs12639833
ADH1B ; ADH1C
1.000 0.080 4 99346215 intron variant C/T snv 0.31
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1614972
rs1614972
ADH1B ; ADH1C
0.925 0.160 4 99336998 intron variant C/T snv 0.38
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 2014
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: rs1614972
rs1614972
ADH1B ; ADH1C
0.925 0.160 4 99336998 intron variant C/T snv 0.38
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1693457
rs1693457
ADH1B
1.000 0.080 4 99315605 non coding transcript exon variant C/T snv 0.81
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.700 1.000 1 2014 2014
dbSNP: rs1693457
rs1693457
ADH1B
1.000 0.080 4 99315605 non coding transcript exon variant C/T snv 0.81
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1693457
rs1693457
ADH1B
1.000 0.080 4 99315605 non coding transcript exon variant C/T snv 0.81
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1789882
rs1789882
ADH1B
1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1789882
rs1789882
ADH1B
1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1789882
rs1789882
ADH1B
1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.700 1.000 1 2014 2014
dbSNP: rs2173201
rs2173201
ADH1B
1.000 0.080 4 99329813 intron variant C/A snv 0.30
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs2173201
rs2173201
ADH1B
1.000 0.080 4 99329813 intron variant C/A snv 0.30
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 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: rs2241894
rs2241894
ADH1B ; ADH1C
1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs2241894
rs2241894
ADH1B ; ADH1C
1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs2241894
rs2241894
ADH1B ; ADH1C
1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.700 1.000 1 2014 2014
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.840 1.000 2 2009 2016
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