Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912815(C;G)
Make rs121912815(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49620546
GeneCHAT
is asnp
is mentioned by
dbSNPrs121912815
ebirs121912815
HLIrs121912815
Exacrs121912815
Varsomers121912815
Maprs121912815
PheGenIrs121912815
hapmaprs121912815
1000 genomesrs121912815
hgdprs121912815
ensemblrs121912815
gopubmedrs121912815
geneviewrs121912815
scholarrs121912815
googlers121912815
pharmgkbrs121912815
gwascentralrs121912815
openSNPrs121912815
23andMers121912815
23andMe allrs121912815
SNP Nexus

SNPshotrs121912815
SNPdbers121912815
MSV3drs121912815
GWAS Ctlgrs121912815
Max Magnitude0
OMIM118490
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912815(G;G)
Alt rs121912815(G;G)
Reference rs121912815(C;C)
Significance Pathogenic
Disease Familial infantile myasthenia
Variation info
Gene CHAT
CLNDBN Familial infantile myasthenia
Reversed 0
HGVS NC_000010.10:g.50828592C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019058.28,