rs397515465

Orientation

minus

Stabilized

minus

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

Make rs397515465(C;C)

Make rs397515465(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

13014469

Gene

ELAC2

is a	snp
is	mentioned by
dbSNP	rs397515465
dbSNP (classic)	rs397515465
ClinGen	rs397515465
ebi	rs397515465
HLI	rs397515465
Exac	rs397515465
Gnomad	rs397515465
Varsome	rs397515465
LitVar	rs397515465
Map	rs397515465
PheGenI	rs397515465
Biobank	rs397515465
1000 genomes	rs397515465
hgdp	rs397515465
ensembl	rs397515465
geneview	rs397515465
scholar	rs397515465
google	rs397515465
pharmgkb	rs397515465
gwascentral	rs397515465
openSNP	rs397515465
23andMe	rs397515465
SNPshot	rs397515465
SNPdbe	rs397515465
MSV3d	rs397515465
GWAS Ctlg	rs397515465

Max Magnitude

0

ClinVar
Risk	rs397515465(C;C)
Alt	rs397515465(C;C)
Reference	Rs397515465(T;T)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 17
Variation	info
Gene	ELAC2
CLNDBN	Combined oxidative phosphorylation deficiency 17
Reversed	1
HGVS	NC_000017.10:g.12917786A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056276.3,