rs267606895

Orientation

plus

Stabilized

plus

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

Make rs267606895(A;C)

Make rs267606895(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

13045

Gene

ND5

is a	snp
is	mentioned by
dbSNP	rs267606895
dbSNP (classic)	rs267606895
ClinGen	rs267606895
ebi	rs267606895
HLI	rs267606895
Exac	rs267606895
Gnomad	rs267606895
Varsome	rs267606895
LitVar	rs267606895
Map	rs267606895
PheGenI	rs267606895
Biobank	rs267606895
1000 genomes	rs267606895
hgdp	rs267606895
ensembl	rs267606895
geneview	rs267606895
scholar	rs267606895
google	rs267606895
pharmgkb	rs267606895
gwascentral	rs267606895
openSNP	rs267606895
23andMe	rs267606895
SNPshot	rs267606895
SNPdbe	rs267606895
MSV3d	rs267606895
GWAS Ctlg	rs267606895

Max Magnitude

0

ClinVar
Risk	rs267606895(C;C)
Alt	rs267606895(C;C)
Reference	Rs267606895(A;A)
Significance	Pathogenic
Disease	Juvenile myopathy Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	ND5
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency
Reversed	0
HGVS	NC_012920.1:m.13045A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010340.2, RCV000010341.2, RCV000010342.3,