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rs879253722

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253722(A;A)
Make rs879253722(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4902216
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs879253722
ebirs879253722
HLIrs879253722
Exacrs879253722
Varsomers879253722
Maprs879253722
PheGenIrs879253722
hapmaprs879253722
1000 genomesrs879253722
hgdprs879253722
ensemblrs879253722
gopubmedrs879253722
geneviewrs879253722
scholarrs879253722
googlers879253722
pharmgkbrs879253722
gwascentralrs879253722
openSNPrs879253722
23andMers879253722
23andMe allrs879253722
SNP Nexus

SNPshotrs879253722
SNPdbers879253722
MSV3drs879253722
GWAS Ctlgrs879253722
Max Magnitude0
ClinVar
Risk rs879253722(A;A)
Alt rs879253722(A;A)
Reference rs879253722(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.4805511C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020017.27,