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rs121912816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912816(A;A)
Make rs121912816(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49648546
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912816
ebirs121912816
HLIrs121912816
Exacrs121912816
Varsomers121912816
Maprs121912816
PheGenIrs121912816
hapmaprs121912816
1000 genomesrs121912816
hgdprs121912816
ensemblrs121912816
gopubmedrs121912816
geneviewrs121912816
scholarrs121912816
googlers121912816
pharmgkbrs121912816
gwascentralrs121912816
openSNPrs121912816
23andMers121912816
23andMe allrs121912816
SNP Nexus

SNPshotrs121912816
SNPdbers121912816
MSV3drs121912816
GWAS Ctlgrs121912816
Merged fromRs28930070
Max Magnitude0
OMIM118490
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912816(A;A)
Alt rs121912816(A;A)
Reference rs121912816(G;G)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50856592G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019059.28,