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rs121912823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912823(C;C)
Make rs121912823(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49627681
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912823
ebirs121912823
HLIrs121912823
Exacrs121912823
Varsomers121912823
Maprs121912823
PheGenIrs121912823
hapmaprs121912823
1000 genomesrs121912823
hgdprs121912823
ensemblrs121912823
gopubmedrs121912823
geneviewrs121912823
scholarrs121912823
googlers121912823
pharmgkbrs121912823
gwascentralrs121912823
openSNPrs121912823
23andMers121912823
23andMe allrs121912823
SNP Nexus

SNPshotrs121912823
SNPdbers121912823
MSV3drs121912823
GWAS Ctlgrs121912823
Max Magnitude0
OMIM118490
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912823(C;C)
Alt rs121912823(C;C)
Reference rs121912823(T;T)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50835727T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019067.29,