rs104894557

Orientation

plus

Stabilized

plus

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

Make rs104894557(A;T)

Make rs104894557(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

14206888

Gene

COX10

is a	snp
is	mentioned by
dbSNP	rs104894557
dbSNP (classic)	rs104894557
ClinGen	rs104894557
ebi	rs104894557
HLI	rs104894557
Exac	rs104894557
Gnomad	rs104894557
Varsome	rs104894557
LitVar	rs104894557
Map	rs104894557
PheGenI	rs104894557
Biobank	rs104894557
1000 genomes	rs104894557
hgdp	rs104894557
ensembl	rs104894557
geneview	rs104894557
scholar	rs104894557
google	rs104894557
pharmgkb	rs104894557
gwascentral	rs104894557
openSNP	rs104894557
23andMe	rs104894557
SNPshot	rs104894557
SNPdbe	rs104894557
MSV3d	rs104894557
GWAS Ctlg	rs104894557

Max Magnitude

0

OMIM	602125
Desc
Variant	0004
Related	also

OMIM	602125
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894557(G;G) rs104894557(T;T)
Alt	rs104894557(G;G) rs104894557(T;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 UniProtKB (protein)
CLNACC	RCV000007961.3, RCV000007960.3,