rs397514593

Orientation

minus

Stabilized

minus

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

Make rs397514593(A;A)

Make rs397514593(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

23552158

Gene

EARS2

is a	snp
is	mentioned by
dbSNP	rs397514593
dbSNP (classic)	rs397514593
ClinGen	rs397514593
ebi	rs397514593
HLI	rs397514593
Exac	rs397514593
Gnomad	rs397514593
Varsome	rs397514593
LitVar	rs397514593
Map	rs397514593
PheGenI	rs397514593
Biobank	rs397514593
1000 genomes	rs397514593
hgdp	rs397514593
ensembl	rs397514593
geneview	rs397514593
scholar	rs397514593
google	rs397514593
pharmgkb	rs397514593
gwascentral	rs397514593
openSNP	rs397514593
23andMe	rs397514593
SNPshot	rs397514593
SNPdbe	rs397514593
MSV3d	rs397514593
GWAS Ctlg	rs397514593

Max Magnitude

0

ClinVar
Risk	rs397514593(A;A) rs397514593(C;C)
Alt	rs397514593(A;A) rs397514593(C;C)
Reference	Rs397514593(G;G)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 12
Variation	info
Gene	EARS2
CLNDBN	Combined oxidative phosphorylation deficiency 12
Reversed	1
HGVS	NC_000016.9:g.23563479C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033013.4,