rs267606897

Orientation

plus

Stabilized

plus

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

Make rs267606897(A;A)

Make rs267606897(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

13513

Gene

ND5

is a	snp
is	mentioned by
dbSNP	rs267606897
dbSNP (classic)	rs267606897
ClinGen	rs267606897
ebi	rs267606897
HLI	rs267606897
Exac	rs267606897
Gnomad	rs267606897
Varsome	rs267606897
LitVar	rs267606897
Map	rs267606897
PheGenI	rs267606897
Biobank	rs267606897
1000 genomes	rs267606897
hgdp	rs267606897
ensembl	rs267606897
geneview	rs267606897
scholar	rs267606897
google	rs267606897
pharmgkb	rs267606897
gwascentral	rs267606897
openSNP	rs267606897
23andMe	rs267606897
SNPshot	rs267606897
SNPdbe	rs267606897
MSV3d	rs267606897
GWAS Ctlg	rs267606897

Max Magnitude

0

ClinVar
Risk	rs267606897(A;A)
Alt	rs267606897(A;A)
Reference	Rs267606897(G;G)
Significance	Pathogenic
Disease	Juvenile myopathy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided
Variation	info
Gene	ND5
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided
Reversed	0
HGVS	NC_012920.1:m.13513G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010345.4, RCV000010346.3, RCV000144016.2, RCV000224472.1,