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rs1057517665

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517665(C;C)
Make rs1057517665(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position49611297
GeneCHAT, SLC18A3
is asnp
is mentioned by
dbSNPrs1057517665
dbSNP (old)rs1057517665
ClinGenrs1057517665
ebirs1057517665
HLIrs1057517665
Exacrs1057517665
Gnomadrs1057517665
Varsomers1057517665
Maprs1057517665
PheGenIrs1057517665
Biobankrs1057517665
1000 genomesrs1057517665
hgdprs1057517665
ensemblrs1057517665
gopubmedrs1057517665
geneviewrs1057517665
scholarrs1057517665
googlers1057517665
pharmgkbrs1057517665
gwascentralrs1057517665
openSNPrs1057517665
23andMers1057517665
23andMe allrs1057517665
SNPshotrs1057517665
SNPdbers1057517665
MSV3drs1057517665
GWAS Ctlgrs1057517665
Max Magnitude0
ClinVar
Risk rs1057517665(C;C)
Alt rs1057517665(C;C)
Reference Rs1057517665(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHAT SLC18A3
CLNDBN Myasthenic syndrome, congenital, 21, presynaptic
Reversed 0
HGVS NC_000010.10:g.50819343G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412561.1,