Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1051730

Hard Link
rs1051730 is a snp on gene CHRNA3 (cholinergic receptor, nicotinic, alpha 3)

GeneCHRNA3 Chromosome number 15 Chromosome position 78601997
Alleles G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.1681
Notation 645C>T, Tyr215= Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Synonymous variant.
Gene Function
This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
GWAS Pathologies
Smoking behavior (G) ~ Smoking behavior (G) ~ Smoking behavior (G) ~ Smoking behavior (A) ~ Lung adenocarcinoma (T) ~ Lung adenocarcinoma (T) ~ Lung cancer (A) ~ Nicotine dependence (T) ~ Nicotine dependence (T) ~ Nicotine dependence (T)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





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