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rs886037628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs886037628(-;T)
Make rs886037628(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position4899255
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs886037628
dbSNP (classic)rs886037628
ClinGenrs886037628
ebirs886037628
HLIrs886037628
Exacrs886037628
Gnomadrs886037628
Varsomers886037628
LitVarrs886037628
Maprs886037628
PheGenIrs886037628
Biobankrs886037628
1000 genomesrs886037628
hgdprs886037628
ensemblrs886037628
geneviewrs886037628
scholarrs886037628
googlers886037628
pharmgkbrs886037628
gwascentralrs886037628
openSNPrs886037628
23andMers886037628
SNPshotrs886037628
SNPdbers886037628
MSV3drs886037628
GWAS Ctlgrs886037628
Max Magnitude0
ClinVar
Risk rs886037628(T;T)
Alt rs886037628(T;T)
Reference Rs886037628(-;-)
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.4802550_4802551insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000020023.30,