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rs17856697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17856697(A;G)
Make rs17856697(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7445306
GeneCHRNB1, FGF11
is asnp
is mentioned by
dbSNPrs17856697
ebirs17856697
HLIrs17856697
Exacrs17856697
Varsomers17856697
Maprs17856697
PheGenIrs17856697
hapmaprs17856697
1000 genomesrs17856697
hgdprs17856697
ensemblrs17856697
gopubmedrs17856697
geneviewrs17856697
scholarrs17856697
googlers17856697
pharmgkbrs17856697
gwascentralrs17856697
openSNPrs17856697
23andMers17856697
23andMe allrs17856697
SNP Nexus

SNPshotrs17856697
SNPdbers17856697
MSV3drs17856697
GWAS Ctlgrs17856697
GMAF0.1713
Max Magnitude0
Venter snp
Source plos
Gene CHRNB1
allele G
frequency
sift TOLERATED
HuRef 1103645272878
Disease Association 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 22406075OA-icon.png] Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia


GET Evidence
CHRNB1-E32G
aa_change Glu32Gly
aa_change_short E32G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.250093
summary



ClinVar
Risk rs17856697(G;G)
Alt rs17856697(G;G)
Reference rs17856697(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CHRNB1 FGF11
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.7348625A>G
CLNSRC ClinVar
CLNACC RCV000116727.1,