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rs121912817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912817(G;T)
Make rs121912817(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49651888
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912817
ebirs121912817
HLIrs121912817
Exacrs121912817
Varsomers121912817
Maprs121912817
PheGenIrs121912817
hapmaprs121912817
1000 genomesrs121912817
hgdprs121912817
ensemblrs121912817
gopubmedrs121912817
geneviewrs121912817
scholarrs121912817
googlers121912817
pharmgkbrs121912817
gwascentralrs121912817
openSNPrs121912817
23andMers121912817
23andMe allrs121912817
SNP Nexus

SNPshotrs121912817
SNPdbers121912817
MSV3drs121912817
GWAS Ctlgrs121912817
Max Magnitude0
OMIM118490
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912817(T;T)
Alt rs121912817(T;T)
Reference rs121912817(G;G)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50859934G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019060.28,