rs387906383

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs387906383(C;C)

Make rs387906383(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

14069607

Gene	COX10, COX10-AS1

is a	snp
is	mentioned by
dbSNP	rs387906383
dbSNP (classic)	rs387906383
ClinGen	rs387906383
ebi	rs387906383
HLI	rs387906383
Exac	rs387906383
Gnomad	rs387906383
Varsome	rs387906383
LitVar	rs387906383
Map	rs387906383
PheGenI	rs387906383
Biobank	rs387906383
1000 genomes	rs387906383
hgdp	rs387906383
ensembl	rs387906383
geneview	rs387906383
scholar	rs387906383
google	rs387906383
pharmgkb	rs387906383
gwascentral	rs387906383
openSNP	rs387906383
23andMe	rs387906383
SNPshot	rs387906383
SNPdbe	rs387906383
MSV3d	rs387906383
GWAS Ctlg	rs387906383

Max Magnitude

0

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,