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rs397514662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514662(C;C)
Make rs397514662(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position99716419
GeneCOX15
is asnp
is mentioned by
dbSNPrs397514662
ebirs397514662
HLIrs397514662
Exacrs397514662
Varsomers397514662
Maprs397514662
PheGenIrs397514662
hapmaprs397514662
1000 genomesrs397514662
hgdprs397514662
ensemblrs397514662
gopubmedrs397514662
geneviewrs397514662
scholarrs397514662
googlers397514662
pharmgkbrs397514662
gwascentralrs397514662
openSNPrs397514662
23andMers397514662
23andMe allrs397514662
SNP Nexus

SNPshotrs397514662
SNPdbers397514662
MSV3drs397514662
GWAS Ctlgrs397514662
Max Magnitude0
ClinVar
Risk rs397514662(C,G;C,G)
Alt rs397514662(C,G;C,G)
Reference rs397514662(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene COX15
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000010.10:g.101476176A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033253.4,