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rs772025588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs772025588(A;C)
Make rs772025588(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome10
Position49614274
GeneCHAT
is asnp
is mentioned by
dbSNPrs772025588
dbSNP (classic)rs772025588
ClinGenrs772025588
ebirs772025588
HLIrs772025588
Exacrs772025588
Gnomadrs772025588
Varsomers772025588
LitVarrs772025588
Maprs772025588
PheGenIrs772025588
Biobankrs772025588
1000 genomesrs772025588
hgdprs772025588
ensemblrs772025588
geneviewrs772025588
scholarrs772025588
googlers772025588
pharmgkbrs772025588
gwascentralrs772025588
openSNPrs772025588
23andMers772025588
SNPshotrs772025588
SNPdbers772025588
MSV3drs772025588
GWAS Ctlgrs772025588
Max Magnitude0
ClinVar
Risk rs772025588(C;C) rs772025588(T;T)
Alt rs772025588(C;C) rs772025588(T;T)
Reference Rs772025588(A;A)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50822320A>T
CLNSRC
CLNACC RCV000303776.1,