rs1060502161

Orientation

minus

Stabilized

minus

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

Make rs1060502161(AG;T)

Make rs1060502161(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

13016933

Gene

ELAC2

is a	snp
is	mentioned by
dbSNP	rs1060502161
dbSNP (classic)	rs1060502161
ClinGen	rs1060502161
ebi	rs1060502161
HLI	rs1060502161
Exac	rs1060502161
Gnomad	rs1060502161
Varsome	rs1060502161
LitVar	rs1060502161
Map	rs1060502161
PheGenI	rs1060502161
Biobank	rs1060502161
1000 genomes	rs1060502161
hgdp	rs1060502161
ensembl	rs1060502161
geneview	rs1060502161
scholar	rs1060502161
google	rs1060502161
pharmgkb	rs1060502161
gwascentral	rs1060502161
openSNP	rs1060502161
23andMe	rs1060502161
SNPshot	rs1060502161
SNPdbe	rs1060502161
MSV3d	rs1060502161
GWAS Ctlg	rs1060502161

Max Magnitude

0

ClinVar
Risk	rs1060502161(T;T)
Alt	rs1060502161(T;T)
Reference	Rs1060502161(AG;AG)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 17 not provided
Variation	info
Gene	ELAC2
CLNDBN	Combined oxidative phosphorylation deficiency 17 not provided
Reversed	1
HGVS	NC_000017.10:g.12920250_12920251delCTinsA
CLNSRC
CLNACC	RCV000472057.1, RCV000484886.1,