rs397515464

Orientation

minus

Stabilized

minus

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

Make rs397515464(A;T)

Make rs397515464(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

13005967

Gene

ELAC2

is a	snp
is	mentioned by
dbSNP	rs397515464
dbSNP (classic)	rs397515464
ClinGen	rs397515464
ebi	rs397515464
HLI	rs397515464
Exac	rs397515464
Gnomad	rs397515464
Varsome	rs397515464
LitVar	rs397515464
Map	rs397515464
PheGenI	rs397515464
Biobank	rs397515464
1000 genomes	rs397515464
hgdp	rs397515464
ensembl	rs397515464
geneview	rs397515464
scholar	rs397515464
google	rs397515464
pharmgkb	rs397515464
gwascentral	rs397515464
openSNP	rs397515464
23andMe	rs397515464
SNPshot	rs397515464
SNPdbe	rs397515464
MSV3d	rs397515464
GWAS Ctlg	rs397515464

Max Magnitude

0

ClinVar
Risk	rs397515464(T;T)
Alt	rs397515464(T;T)
Reference	Rs397515464(A;A)
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.12909284T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056275.2,