Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16862847
rs16862847
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0026896
Disease:
Myasthenia Gravis 		0.010 GeneticVariation BEFREE Genetic interaction analysis revealed a synergistic effect of CHRNA1 (rs16862847), AIRE (rs3761389), and CTLA-4 (rs733618) in the susceptibility of MG (P < 0.0001, OR = 1.95). 27501803 2017
dbSNP: rs3755486
rs3755486
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
dbSNP: rs3755486
rs3755486
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
dbSNP: rs3755486
rs3755486
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
dbSNP: rs2600683
rs2600683
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2600685
rs2600685
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs768407867
rs768407867
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 27748205 2017
dbSNP: rs935863
rs935863
Entrez Id: 1134;105373750
Gene Symbol: CHRNA1;LOC105373750
CHRNA1;LOC105373750
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs187076367
rs187076367
Entrez Id: 1134;105373750
Gene Symbol: CHRNA1;LOC105373750
CHRNA1;LOC105373750
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs545520806
rs545520806
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0455988
Disease:
Hydrops Fetalis, Non-Immune 		A 0.700 GeneticVariation CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
dbSNP: rs137852803
rs137852803
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Inherited disorders of the neuromuscular junction: an update. 25305004 2014
dbSNP: rs768407867
rs768407867
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 24121633 2013
dbSNP: rs137852803
rs137852803
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. 18806275 2008
dbSNP: rs137852803
rs137852803
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
dbSNP: rs137852803
rs137852803
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
dbSNP: rs137852801
rs137852801
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 9158151 1997
dbSNP: rs137852801
rs137852801
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 7619526 1995
dbSNP: rs137852801
rs137852801
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. 6287911 1982
dbSNP: rs483353046
rs483353046
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs483353046
rs483353046
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		T 0.700 CausalMutation CLINVAR
dbSNP: rs768407867
rs768407867
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR
dbSNP: rs768407867
rs768407867
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0004352
Disease:
Autistic Disorder 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852809
rs137852809
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 GeneticVariation UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
dbSNP: rs137852798
rs137852798
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 16685696 2006
dbSNP: rs137852799
rs137852799
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C4084823
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 16685696 2006