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rs118203994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203994(C;C)
Make rs118203994(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position3485545
GeneDOK7
is asnp
is mentioned by
dbSNPrs118203994
ebirs118203994
HLIrs118203994
Exacrs118203994
Varsomers118203994
Maprs118203994
PheGenIrs118203994
hapmaprs118203994
1000 genomesrs118203994
hgdprs118203994
ensemblrs118203994
gopubmedrs118203994
geneviewrs118203994
scholarrs118203994
googlers118203994
pharmgkbrs118203994
gwascentralrs118203994
openSNPrs118203994
23andMers118203994
23andMe allrs118203994
SNP Nexus

SNPshotrs118203994
SNPdbers118203994
MSV3drs118203994
GWAS Ctlgrs118203994
Max Magnitude0
OMIM610285
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203994(C;C)
Alt rs118203994(C;C)
Reference rs118203994(G;G)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3487272G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001340.3,