Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906383(C;C)
Make rs387906383(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position14069607
GeneCOX10, COX10-AS1
is asnp
is mentioned by
dbSNPrs387906383
ebirs387906383
HLIrs387906383
Exacrs387906383
Varsomers387906383
Maprs387906383
PheGenIrs387906383
hapmaprs387906383
1000 genomesrs387906383
hgdprs387906383
ensemblrs387906383
gopubmedrs387906383
geneviewrs387906383
scholarrs387906383
googlers387906383
pharmgkbrs387906383
gwascentralrs387906383
openSNPrs387906383
23andMers387906383
23andMe allrs387906383
SNP Nexus

SNPshotrs387906383
SNPdbers387906383
MSV3drs387906383
GWAS Ctlgrs387906383
Max Magnitude0
ClinVar
Risk rs387906383(C;C)
Alt rs387906383(C;C)
Reference rs387906383(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene COX10 COX10-AS1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 0
HGVS NC_000017.10:g.13972924T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007962.3,