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rs121912819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912819(A;A)
Make rs121912819(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49655139
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912819
ebirs121912819
HLIrs121912819
Exacrs121912819
Varsomers121912819
Maprs121912819
PheGenIrs121912819
hapmaprs121912819
1000 genomesrs121912819
hgdprs121912819
ensemblrs121912819
gopubmedrs121912819
geneviewrs121912819
scholarrs121912819
googlers121912819
pharmgkbrs121912819
gwascentralrs121912819
openSNPrs121912819
23andMers121912819
23andMe allrs121912819
SNP Nexus

SNPshotrs121912819
SNPdbers121912819
MSV3drs121912819
GWAS Ctlgrs121912819
Max Magnitude0
OMIM118490
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912819(A;A)
Alt rs121912819(A;A)
Reference rs121912819(G;G)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50863185G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019062.24,