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rs121912820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912820(C;C)
Make rs121912820(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49620544
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912820
ebirs121912820
HLIrs121912820
Exacrs121912820
Varsomers121912820
Maprs121912820
PheGenIrs121912820
hapmaprs121912820
1000 genomesrs121912820
hgdprs121912820
ensemblrs121912820
gopubmedrs121912820
geneviewrs121912820
scholarrs121912820
googlers121912820
pharmgkbrs121912820
gwascentralrs121912820
openSNPrs121912820
23andMers121912820
23andMe allrs121912820
SNP Nexus

SNPshotrs121912820
SNPdbers121912820
MSV3drs121912820
GWAS Ctlgrs121912820
Merged fromRs28930071
Max Magnitude0
OMIM118490
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912820(C;C)
Alt rs121912820(C;C)
Reference rs121912820(T;T)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50828590T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019063.28,