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rs606231132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231132(-;C)
Make rs606231132(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position3493129
GeneDOK7
is asnp
is mentioned by
dbSNPrs606231132
dbSNP (classic)rs606231132
ClinGenrs606231132
ebirs606231132
HLIrs606231132
Exacrs606231132
Gnomadrs606231132
Varsomers606231132
LitVarrs606231132
Maprs606231132
PheGenIrs606231132
Biobankrs606231132
1000 genomesrs606231132
hgdprs606231132
ensemblrs606231132
geneviewrs606231132
scholarrs606231132
googlers606231132
pharmgkbrs606231132
gwascentralrs606231132
openSNPrs606231132
23andMers606231132
SNPshotrs606231132
SNPdbers606231132
MSV3drs606231132
GWAS Ctlgrs606231132
Max Magnitude0
ClinVar
Risk rs606231132(C;C)
Alt rs606231132(C;C)
Reference Rs606231132(-;-)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3494856dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001339.4,