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rs797045040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045040(-;TCCAGTCTGT)
Make rs797045040(TCCAGTCTGT;TCCAGTCTGT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position3493471
GeneDOK7
is asnp
is mentioned by
dbSNPrs797045040
dbSNP (old)rs797045040
ClinGenrs797045040
ebirs797045040
HLIrs797045040
Exacrs797045040
Gnomadrs797045040
Varsomers797045040
Maprs797045040
PheGenIrs797045040
Biobankrs797045040
1000 genomesrs797045040
hgdprs797045040
ensemblrs797045040
gopubmedrs797045040
geneviewrs797045040
scholarrs797045040
googlers797045040
pharmgkbrs797045040
gwascentralrs797045040
openSNPrs797045040
23andMers797045040
23andMe allrs797045040
SNP Nexus

SNPshotrs797045040
SNPdbers797045040
MSV3drs797045040
GWAS Ctlgrs797045040
Max Magnitude0
ClinVar
Risk rs797045040(TCCAGTCTGT;TCCAGTCTGT)
Alt rs797045040(TCCAGTCTGT;TCCAGTCTGT)
Reference Rs797045040(-;-)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3495189_3495198dupTCCAGTCTGT
CLNSRC Baylor College of Medicine
CLNACC RCV000191079.1,