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rs606231129

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231129(-;-)
Make rs606231129(-;C)
Make rs606231129(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position3493249
GeneDOK7
is asnp
is mentioned by
dbSNPrs606231129
ebirs606231129
HLIrs606231129
Exacrs606231129
Varsomers606231129
Maprs606231129
PheGenIrs606231129
hapmaprs606231129
1000 genomesrs606231129
hgdprs606231129
ensemblrs606231129
gopubmedrs606231129
geneviewrs606231129
scholarrs606231129
googlers606231129
pharmgkbrs606231129
gwascentralrs606231129
openSNPrs606231129
23andMers606231129
23andMe allrs606231129
SNP Nexus

SNPshotrs606231129
SNPdbers606231129
MSV3drs606231129
GWAS Ctlgrs606231129
Max Magnitude0
ClinVar
Risk rs606231129(C;C)
Alt rs606231129(C;C)
Reference rs606231129(;)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3494976dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001336.4, RCV000200829.1,