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rs121912821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912821(C;T)
Make rs121912821(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49649618
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912821
ebirs121912821
HLIrs121912821
Exacrs121912821
Varsomers121912821
Maprs121912821
PheGenIrs121912821
hapmaprs121912821
1000 genomesrs121912821
hgdprs121912821
ensemblrs121912821
gopubmedrs121912821
geneviewrs121912821
scholarrs121912821
googlers121912821
pharmgkbrs121912821
gwascentralrs121912821
openSNPrs121912821
23andMers121912821
23andMe allrs121912821
SNP Nexus

SNPshotrs121912821
SNPdbers121912821
MSV3drs121912821
GWAS Ctlgrs121912821
Max Magnitude0
OMIM118490
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912821(T;T)
Alt rs121912821(T;T)
Reference rs121912821(C;C)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50857664C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019064.25,