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rs763258280

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763258280(-;-)
Make rs763258280(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4898891
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs763258280
ebirs763258280
HLIrs763258280
Exacrs763258280
Varsomers763258280
Maprs763258280
PheGenIrs763258280
hapmaprs763258280
1000 genomesrs763258280
hgdprs763258280
ensemblrs763258280
gopubmedrs763258280
geneviewrs763258280
scholarrs763258280
googlers763258280
pharmgkbrs763258280
gwascentralrs763258280
openSNPrs763258280
23andMers763258280
23andMe allrs763258280
SNP Nexus

SNPshotrs763258280
SNPdbers763258280
MSV3drs763258280
GWAS Ctlgrs763258280
Max Magnitude0
ClinVar
Risk rs763258280(;)
Alt rs763258280(;)
Reference rs763258280(C;C)
Significance Pathogenic
Disease Myasthenic syndrome Congenital myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome
Reversed 0
HGVS NC_000017.10:g.4802186delC
CLNSRC CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000020022.29, RCV000235026.1,