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rs104894557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894557(A;T)
Make rs104894557(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position14206888
GeneCOX10
is asnp
is mentioned by
dbSNPrs104894557
ebirs104894557
HLIrs104894557
Exacrs104894557
Varsomers104894557
Maprs104894557
PheGenIrs104894557
hapmaprs104894557
1000 genomesrs104894557
hgdprs104894557
ensemblrs104894557
gopubmedrs104894557
geneviewrs104894557
scholarrs104894557
googlers104894557
pharmgkbrs104894557
gwascentralrs104894557
openSNPrs104894557
23andMers104894557
23andMe allrs104894557
SNP Nexus

SNPshotrs104894557
SNPdbers104894557
MSV3drs104894557
GWAS Ctlgrs104894557
Max Magnitude0
OMIM602125
Desc
Variant0004
Relatedalso
OMIM602125
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894557(G,T;G,T)
Alt rs104894557(G,T;G,T)
Reference rs104894557(A;A)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene COX10
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 0
HGVS NC_000017.10:g.14110205A>G; NC_000017.10:g.14110205A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007961.3, RCV000007960.3,