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rs863223277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223277(G;T)
Make rs863223277(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position3463505
GeneDOK7
is asnp
is mentioned by
dbSNPrs863223277
dbSNP (classic)rs863223277
ClinGenrs863223277
ebirs863223277
HLIrs863223277
Exacrs863223277
Gnomadrs863223277
Varsomers863223277
LitVarrs863223277
Maprs863223277
PheGenIrs863223277
Biobankrs863223277
1000 genomesrs863223277
hgdprs863223277
ensemblrs863223277
geneviewrs863223277
scholarrs863223277
googlers863223277
pharmgkbrs863223277
gwascentralrs863223277
openSNPrs863223277
23andMers863223277
SNPshotrs863223277
SNPdbers863223277
MSV3drs863223277
GWAS Ctlgrs863223277
Max Magnitude0
ClinVar
Risk rs863223277(T;T)
Alt rs863223277(T;T)
Reference Rs863223277(G;G)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3465232G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001342.4,