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rs121912818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912818(A;G)
Make rs121912818(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49649569
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912818
ebirs121912818
HLIrs121912818
Exacrs121912818
Varsomers121912818
Maprs121912818
PheGenIrs121912818
hapmaprs121912818
1000 genomesrs121912818
hgdprs121912818
ensemblrs121912818
gopubmedrs121912818
geneviewrs121912818
scholarrs121912818
googlers121912818
pharmgkbrs121912818
gwascentralrs121912818
openSNPrs121912818
23andMers121912818
23andMe allrs121912818
SNP Nexus

SNPshotrs121912818
SNPdbers121912818
MSV3drs121912818
GWAS Ctlgrs121912818
Merged fromRs28929481
Max Magnitude0
OMIM118490
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912818(C,G;C,G)
Alt rs121912818(C,G;C,G)
Reference rs121912818(A;A)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50857615A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019061.24,