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rs1057517666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517666(C;C)
Make rs1057517666(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position49611932
GeneCHAT, SLC18A3
is asnp
is mentioned by
dbSNPrs1057517666
dbSNP (old)rs1057517666
ClinGenrs1057517666
ebirs1057517666
HLIrs1057517666
Exacrs1057517666
Gnomadrs1057517666
Varsomers1057517666
LitVarrs1057517666
Maprs1057517666
PheGenIrs1057517666
Biobankrs1057517666
1000 genomesrs1057517666
hgdprs1057517666
ensemblrs1057517666
gopubmedrs1057517666
geneviewrs1057517666
scholarrs1057517666
googlers1057517666
pharmgkbrs1057517666
gwascentralrs1057517666
openSNPrs1057517666
23andMers1057517666
23andMe allrs1057517666
SNPshotrs1057517666
SNPdbers1057517666
MSV3drs1057517666
GWAS Ctlgrs1057517666
Max Magnitude0
ClinVar
Risk rs1057517666(C;C)
Alt rs1057517666(C;C)
Reference Rs1057517666(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.50819978G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412646.1,