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rs748144899

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748144899(A;A)
Make rs748144899(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4903159
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs748144899
ebirs748144899
HLIrs748144899
Exacrs748144899
Varsomers748144899
Maprs748144899
PheGenIrs748144899
hapmaprs748144899
1000 genomesrs748144899
hgdprs748144899
ensemblrs748144899
gopubmedrs748144899
geneviewrs748144899
scholarrs748144899
googlers748144899
pharmgkbrs748144899
gwascentralrs748144899
openSNPrs748144899
23andMers748144899
23andMe allrs748144899
SNP Nexus

SNPshotrs748144899
SNPdbers748144899
MSV3drs748144899
GWAS Ctlgrs748144899
Max Magnitude0
ClinVar
Risk rs748144899(A;A)
Alt rs748144899(A;A)
Reference rs748144899(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000017.10:g.4806454G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020021.27,