rs397514662

Orientation

minus

Stabilized

minus

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

Make rs397514662(C;C)

Make rs397514662(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

99716419

Gene

COX15

is a	snp
is	mentioned by
dbSNP	rs397514662
dbSNP (classic)	rs397514662
ClinGen	rs397514662
ebi	rs397514662
HLI	rs397514662
Exac	rs397514662
Gnomad	rs397514662
Varsome	rs397514662
LitVar	rs397514662
Map	rs397514662
PheGenI	rs397514662
Biobank	rs397514662
1000 genomes	rs397514662
hgdp	rs397514662
ensembl	rs397514662
geneview	rs397514662
scholar	rs397514662
google	rs397514662
pharmgkb	rs397514662
gwascentral	rs397514662
openSNP	rs397514662
23andMe	rs397514662
SNPshot	rs397514662
SNPdbe	rs397514662
MSV3d	rs397514662
GWAS Ctlg	rs397514662

Max Magnitude

0

ClinVar
Risk	rs397514662(C;C) rs397514662(G;G)
Alt	rs397514662(C;C) rs397514662(G;G)
Reference	Rs397514662(T;T)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome not provided
Variation	info
Gene	COX15
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive not provided
Reversed	1
HGVS	NC_000010.10:g.101476176A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033253.4, RCV000413484.1,