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rs121912822

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912822(C;T)
Make rs121912822(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49646651
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912822
ebirs121912822
HLIrs121912822
Exacrs121912822
Varsomers121912822
Maprs121912822
PheGenIrs121912822
hapmaprs121912822
1000 genomesrs121912822
hgdprs121912822
ensemblrs121912822
gopubmedrs121912822
geneviewrs121912822
scholarrs121912822
googlers121912822
pharmgkbrs121912822
gwascentralrs121912822
openSNPrs121912822
23andMers121912822
23andMe allrs121912822
SNP Nexus

SNPshotrs121912822
SNPdbers121912822
MSV3drs121912822
GWAS Ctlgrs121912822
Max Magnitude0
OMIM118490
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912822(T;T)
Alt rs121912822(T;T)
Reference rs121912822(C;C)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50854697C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019066.28,