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rs118203995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203995(C;T)
Make rs118203995(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position3485607
GeneDOK7
is asnp
is mentioned by
dbSNPrs118203995
ebirs118203995
HLIrs118203995
Exacrs118203995
Varsomers118203995
Maprs118203995
PheGenIrs118203995
hapmaprs118203995
1000 genomesrs118203995
hgdprs118203995
ensemblrs118203995
gopubmedrs118203995
geneviewrs118203995
scholarrs118203995
googlers118203995
pharmgkbrs118203995
gwascentralrs118203995
openSNPrs118203995
23andMers118203995
23andMe allrs118203995
SNP Nexus

SNPshotrs118203995
SNPdbers118203995
MSV3drs118203995
GWAS Ctlgrs118203995
Max Magnitude0
OMIM610285
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118203995(G,T;G,T)
Alt rs118203995(G,T;G,T)
Reference rs118203995(C;C)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3487334C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001341.3,