rs397515463

Orientation

minus

Stabilized

minus

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

Make rs397515463(C;T)

Make rs397515463(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

12996647

Gene

ELAC2

is a	snp
is	mentioned by
dbSNP	rs397515463
dbSNP (classic)	rs397515463
ClinGen	rs397515463
ebi	rs397515463
HLI	rs397515463
Exac	rs397515463
Gnomad	rs397515463
Varsome	rs397515463
LitVar	rs397515463
Map	rs397515463
PheGenI	rs397515463
Biobank	rs397515463
1000 genomes	rs397515463
hgdp	rs397515463
ensembl	rs397515463
geneview	rs397515463
scholar	rs397515463
google	rs397515463
pharmgkb	rs397515463
gwascentral	rs397515463
openSNP	rs397515463
23andMe	rs397515463
SNPshot	rs397515463
SNPdbe	rs397515463
MSV3d	rs397515463
GWAS Ctlg	rs397515463

Max Magnitude

0

ClinVar
Risk	rs397515463(T;T)
Alt	rs397515463(T;T)
Reference	Rs397515463(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.12899964G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056274.3,