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rs606231131

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231131(-;-)
Make rs606231131(-;CTGG)
Make rs606231131(CTGG;CTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position3493328
GeneDOK7
is asnp
is mentioned by
dbSNPrs606231131
ebirs606231131
HLIrs606231131
Exacrs606231131
Varsomers606231131
Maprs606231131
PheGenIrs606231131
hapmaprs606231131
1000 genomesrs606231131
hgdprs606231131
ensemblrs606231131
gopubmedrs606231131
geneviewrs606231131
scholarrs606231131
googlers606231131
pharmgkbrs606231131
gwascentralrs606231131
openSNPrs606231131
23andMers606231131
23andMe allrs606231131
SNP Nexus

SNPshotrs606231131
SNPdbers606231131
MSV3drs606231131
GWAS Ctlgrs606231131
Max Magnitude0
ClinVar
Risk rs606231131(CTGG;CTGG)
Alt rs606231131(CTGG;CTGG)
Reference rs606231131(;)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3495052_3495055dupCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001338.4,