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rs764365793

From SNPedia

Merged intors606231128
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
Make rs764365793(-;GCCT)
Make rs764365793(GCCT;GCCT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position3493106
GeneDOK7
is asnp
is mentioned by
dbSNPrs764365793
ClinGenrs764365793
ebirs764365793
HLIrs764365793
Exacrs764365793
Varsomers764365793
Maprs764365793
PheGenIrs764365793
hapmaprs764365793
1000 genomesrs764365793
hgdprs764365793
ensemblrs764365793
gopubmedrs764365793
geneviewrs764365793
scholarrs764365793
googlers764365793
pharmgkbrs764365793
gwascentralrs764365793
openSNPrs764365793
23andMers764365793
23andMe allrs764365793
SNP Nexus

SNPshotrs764365793
SNPdbers764365793
MSV3drs764365793
GWAS Ctlgrs764365793
StatusMerged into rs606231128
Max Magnitude0
ClinVar
Risk rs764365793(GCCT;GCCT)
Alt rs764365793(GCCT;GCCT)
Reference Rs764365793(;)
Significance Pathogenic
Disease Myasthenia not provided Congenital myasthenic syndrome
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial not provided Congenital myasthenic syndrome
Reversed 0
HGVS NC_000004.11:g.3494837_3494840dupTGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001335.5, RCV000202989.1, RCV000235027.1,