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
0.925 0.080 4 99347033 stop gained C/A;T snv
PARKINSON DISEASE, MITOCHONDRIAL (disorder)
0.700 0
dbSNP: rs1229984
rs1229984
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.900 1.000 4 2004 2019
dbSNP: rs1229984
rs1229984
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
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: rs1042026
rs1042026
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: rs1229984
rs1229984
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
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: rs1789891
rs1789891
1.000 0.080 4 99329262 intron variant C/A snv 0.13
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.820 1.000 2 2012 2019
dbSNP: rs1789891
rs1789891
1.000 0.080 4 99329262 intron variant C/A snv 0.13
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
0.700 1.000 2 2012 2017
dbSNP: rs1789891
rs1789891
1.000 0.080 4 99329262 intron variant C/A snv 0.13
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
0.700 1.000 2 2012 2017
dbSNP: rs17033
rs17033
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: rs1229984
rs1229984
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
0.700 1.000 4 2013 2019
dbSNP: rs1229984
rs1229984
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
0.700 1.000 4 2013 2019
dbSNP: rs1229984
rs1229984
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.800 1.000 2 2013 2017
dbSNP: rs1614972
rs1614972
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: rs2066702
rs2066702
0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
0.700 1.000 2 2014 2019
dbSNP: rs2066702
rs2066702
0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
0.700 1.000 2 2014 2019
dbSNP: rs2066702
rs2066702
0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.720 1.000 2 2014 2019
dbSNP: rs1229984
rs1229984
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: rs12639833
rs12639833
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
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
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
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
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
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