rs397515466

Orientation

minus

Stabilized

minus

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

Make rs397515466(C;T)

Make rs397515466(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

13002311

Gene

ELAC2

is a	snp
is	mentioned by
dbSNP	rs397515466
dbSNP (classic)	rs397515466
ClinGen	rs397515466
ebi	rs397515466
HLI	rs397515466
Exac	rs397515466
Gnomad	rs397515466
Varsome	rs397515466
LitVar	rs397515466
Map	rs397515466
PheGenI	rs397515466
Biobank	rs397515466
1000 genomes	rs397515466
hgdp	rs397515466
ensembl	rs397515466
geneview	rs397515466
scholar	rs397515466
google	rs397515466
pharmgkb	rs397515466
gwascentral	rs397515466
openSNP	rs397515466
23andMe	rs397515466
SNPshot	rs397515466
SNPdbe	rs397515466
MSV3d	rs397515466
GWAS Ctlg	rs397515466

Max Magnitude

0

ClinVar
Risk	rs397515466(T;T)
Alt	rs397515466(T;T)
Reference	Rs397515466(C;C)
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.12905628G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056277.3,