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rs879255563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255563(A;A)
Make rs879255563(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position4901641
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs879255563
dbSNP (classic)rs879255563
ClinGenrs879255563
ebirs879255563
HLIrs879255563
Exacrs879255563
Gnomadrs879255563
Varsomers879255563
LitVarrs879255563
Maprs879255563
PheGenIrs879255563
Biobankrs879255563
1000 genomesrs879255563
hgdprs879255563
ensemblrs879255563
geneviewrs879255563
scholarrs879255563
googlers879255563
pharmgkbrs879255563
gwascentralrs879255563
openSNPrs879255563
23andMers879255563
SNPshotrs879255563
SNPdbers879255563
MSV3drs879255563
GWAS Ctlgrs879255563
Max Magnitude0
ClinVar
Risk rs879255563(A;A)
Alt rs879255563(A;A)
Reference Rs879255563(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000017.10:g.4804936C>T
CLNSRC CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000020030.28,