Have questions? Visit https://www.reddit.com/r/SNPedia

rs75466054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs75466054(C;C)
Make rs75466054(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49625634
GeneCHAT
is asnp
is mentioned by
dbSNPrs75466054
ebirs75466054
HLIrs75466054
Exacrs75466054
Varsomers75466054
Maprs75466054
PheGenIrs75466054
hapmaprs75466054
1000 genomesrs75466054
hgdprs75466054
ensemblrs75466054
gopubmedrs75466054
geneviewrs75466054
scholarrs75466054
googlers75466054
pharmgkbrs75466054
gwascentralrs75466054
openSNPrs75466054
23andMers75466054
23andMe allrs75466054
SNP Nexus

SNPshotrs75466054
SNPdbers75466054
MSV3drs75466054
GWAS Ctlgrs75466054
Merged fromRs28929482
Max Magnitude0
OMIM118490
Desc
Variant0009
Relatedalso
ClinVar
Risk rs75466054(C,G;C,G)
Alt rs75466054(C,G;C,G)
Reference rs75466054(T;T)
Significance Pathogenic
Disease Familial infantile myasthenia Congenital myasthenic syndrome
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia Congenital myasthenic syndrome
Reversed 0
HGVS NC_000010.10:g.50833680T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019065.24, RCV000235033.1,