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rs606231130

From SNPedia

Orientationplus
Geno Mag Summary
(CTTC;CTTC) 0 common in clinvar
Make rs606231130(-;-)
Make rs606231130(-;TCCT)
Make rs606231130(TCCT;TCCT)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position3485554
GeneDOK7
is asnp
is mentioned by
dbSNPrs606231130
ebirs606231130
HLIrs606231130
Exacrs606231130
Varsomers606231130
Maprs606231130
PheGenIrs606231130
hapmaprs606231130
1000 genomesrs606231130
hgdprs606231130
ensemblrs606231130
gopubmedrs606231130
geneviewrs606231130
scholarrs606231130
googlers606231130
pharmgkbrs606231130
gwascentralrs606231130
openSNPrs606231130
23andMers606231130
23andMe allrs606231130
SNP Nexus

SNPshotrs606231130
SNPdbers606231130
MSV3drs606231130
GWAS Ctlgrs606231130
Max Magnitude0
ClinVar
Risk rs606231130(;)
Alt rs606231130(;)
Reference rs606231130(CTTC;CTTC)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3487281_3487284delTCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001337.4,