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rs587776513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776513(-;-)
Make rs587776513(-;C)
Make rs587776513(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position63606397
GeneTACO1
is asnp
is mentioned by
dbSNPrs587776513
ebirs587776513
HLIrs587776513
Exacrs587776513
Varsomers587776513
Maprs587776513
PheGenIrs587776513
hapmaprs587776513
1000 genomesrs587776513
hgdprs587776513
ensemblrs587776513
gopubmedrs587776513
geneviewrs587776513
scholarrs587776513
googlers587776513
pharmgkbrs587776513
gwascentralrs587776513
openSNPrs587776513
23andMers587776513
23andMe allrs587776513
SNP Nexus

SNPshotrs587776513
SNPdbers587776513
MSV3drs587776513
GWAS Ctlgrs587776513
Max Magnitude0
ClinVar
Risk rs587776513(C;C)
Alt rs587776513(C;C)
Reference rs587776513(;)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene TACO1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 0
HGVS NC_000017.10:g.61683757dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000439.3,