Source: BEFREE

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: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.780 0.889 8 2010 2018
dbSNP: rs55781567
rs55781567
CHRNA5
0.851 0.080 15 78565644 5 prime UTR variant C/G snv 0.31
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2013 2017
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		0.100 1.000 29 2008 2018
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.963 27 2008 2018
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.963 27 2008 2018
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.963 27 2008 2018
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2010 2017
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2010 2017
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2011 2019
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		0.020 1.000 2 2008 2010
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 1.000 2 2009 2010
dbSNP: rs680244
rs680244
CHRNA5
0.882 0.120 15 78578946 intron variant T/C snv 0.60
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		0.020 1.000 2 2006 2014
dbSNP: rs11637635
rs11637635
CHRNA5
0.882 0.080 15 78584808 intron variant A/G snv 0.68
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs11637635
rs11637635
CHRNA5
0.882 0.080 15 78584808 intron variant A/G snv 0.68
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2010 2010
dbSNP: rs11637635
rs11637635
CHRNA5
0.882 0.080 15 78584808 intron variant A/G snv 0.68
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs12898919
rs12898919
CHRNA5
1.000 0.040 15 78588235 intron variant G/C snv 3.1E-02
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		0.010 1.000 1 2015 2015
dbSNP: rs149941240
rs149941240
CHRNA5
1.000 0.080 15 78591694 intron variant CCTT/- delins 6.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 < 0.001 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0815107
Disease: psychological distress
psychological distress 		0.010 < 0.001 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2011 2011
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0240602
Disease: opioid use
opioid use 		0.010 1.000 1 2017 2017
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		0.010 1.000 1 2011 2011
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		0.010 1.000 1 2014 2014