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rs794727516

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727516(C;T)
Make rs794727516(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49619755
GeneCHAT
is asnp
is mentioned by
dbSNPrs794727516
ebirs794727516
HLIrs794727516
Exacrs794727516
Varsomers794727516
Maprs794727516
PheGenIrs794727516
hapmaprs794727516
1000 genomesrs794727516
hgdprs794727516
ensemblrs794727516
gopubmedrs794727516
geneviewrs794727516
scholarrs794727516
googlers794727516
pharmgkbrs794727516
gwascentralrs794727516
openSNPrs794727516
23andMers794727516
23andMe allrs794727516
SNP Nexus

SNPshotrs794727516
SNPdbers794727516
MSV3drs794727516
GWAS Ctlgrs794727516
Max Magnitude0
ClinVar
Risk rs794727516(T;T)
Alt rs794727516(T;T)
Reference rs794727516(C;C)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50827801C>T
CLNSRC
CLNACC RCV000177317.1,