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rs483353046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483353046(A;A)
Make rs483353046(A;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position174753544
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs483353046
ebirs483353046
HLIrs483353046
Exacrs483353046
Varsomers483353046
Maprs483353046
PheGenIrs483353046
hapmaprs483353046
1000 genomesrs483353046
hgdprs483353046
ensemblrs483353046
gopubmedrs483353046
geneviewrs483353046
scholarrs483353046
googlers483353046
pharmgkbrs483353046
gwascentralrs483353046
openSNPrs483353046
23andMers483353046
23andMe allrs483353046
SNP Nexus

SNPshotrs483353046
SNPdbers483353046
MSV3drs483353046
GWAS Ctlgrs483353046
Max Magnitude0
ClinVar
Risk rs483353046(A,T;A,T)
Alt rs483353046(A,T;A,T)
Reference rs483353046(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175618272G>A; NC_000002.11:g.175618272G>T
CLNSRC ClinVar
CLNACC RCV000122733.3, RCV000122732.3,