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rs879253723

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253723(-;-)
Make rs879253723(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4899470
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs879253723
ebirs879253723
HLIrs879253723
Exacrs879253723
Varsomers879253723
Maprs879253723
PheGenIrs879253723
hapmaprs879253723
1000 genomesrs879253723
hgdprs879253723
ensemblrs879253723
gopubmedrs879253723
geneviewrs879253723
scholarrs879253723
googlers879253723
pharmgkbrs879253723
gwascentralrs879253723
openSNPrs879253723
23andMers879253723
23andMe allrs879253723
SNP Nexus

SNPshotrs879253723
SNPdbers879253723
MSV3drs879253723
GWAS Ctlgrs879253723
Max Magnitude0
ClinVar
Risk rs879253723(;)
Alt rs879253723(;)
Reference rs879253723(C;C)
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.4802765delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000020018.28,