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rs753828284

From SNPedia

Orientationplus
Geno Mag Summary
(ATGGCCC;ATGGCCC) 0 common in clinvar
Make rs753828284(-;-)
Make rs753828284(-;ATGGCCC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4901172
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs753828284
ebirs753828284
HLIrs753828284
Exacrs753828284
Varsomers753828284
Maprs753828284
PheGenIrs753828284
hapmaprs753828284
1000 genomesrs753828284
hgdprs753828284
ensemblrs753828284
gopubmedrs753828284
geneviewrs753828284
scholarrs753828284
googlers753828284
pharmgkbrs753828284
gwascentralrs753828284
openSNPrs753828284
23andMers753828284
23andMe allrs753828284
SNP Nexus

SNPshotrs753828284
SNPdbers753828284
MSV3drs753828284
GWAS Ctlgrs753828284
Max Magnitude0
ClinVar
Risk rs753828284(;)
Alt rs753828284(;)
Reference rs753828284(ATGGCCC;ATGGCCC)
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.4804467_4804473delATGGCCC
CLNSRC CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000020025.28,