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rs786204773

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204773(A;T)
Make rs786204773(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position4899386
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs786204773
ebirs786204773
HLIrs786204773
Exacrs786204773
Varsomers786204773
Maprs786204773
PheGenIrs786204773
hapmaprs786204773
1000 genomesrs786204773
hgdprs786204773
ensemblrs786204773
gopubmedrs786204773
geneviewrs786204773
scholarrs786204773
googlers786204773
pharmgkbrs786204773
gwascentralrs786204773
openSNPrs786204773
23andMers786204773
23andMe allrs786204773
SNP Nexus

SNPshotrs786204773
SNPdbers786204773
MSV3drs786204773
GWAS Ctlgrs786204773
Max Magnitude0
ClinVar
Risk rs786204773(T;T)
Alt rs786204773(T;T)
Reference rs786204773(A;A)
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.4802681T>A
CLNSRC
CLNACC RCV000169653.1,