{{Rsnum
|rsid=17856697
|Gene=CHRNB1
|Chromosome=17
|position=7445306
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1713
|Gene_s=CHRNB1,FGF11
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{Venter SNP
|rsid=17856697
|allele=G
|frequency=
|uid=1103645272878
|type=heterozygous_SNP
|hugo=CHRNB1
|ensembl gene=ENSG00000170175
|ensembl transcript=ENST00000380609
|sift=TOLERATED
|disease=Defects in CHRNB1 are a cause of congenital myasthenic syndrome type Id (CMS1d) (MIM:608931); also called congenital myasthenic syndrome associated with acetylcholine receptor deficiency. Mutations underlying AChR deficiency cause a ""loss of function"" and show recessive inheritance.
}}

{{PMID Auto
|PMID=22406075
|Title=Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia
}}

{{GET Evidence
|gene=CHRNB1
|aa_change=Glu32Gly
|aa_change_short=E32G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17856697
|overall_frequency_n=2687
|overall_frequency_d=10744
|overall_frequency=0.250093
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=13
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|gene_in_genetests=Y
|pph2_score=0.288
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}