rs28939714

Orientation

plus

Stabilized

plus

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

Make rs28939714(C;T)

Make rs28939714(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47582140

Gene

NDUFS3

is a	snp
is	mentioned by
dbSNP	rs28939714
dbSNP (classic)	rs28939714
ClinGen	rs28939714
ebi	rs28939714
HLI	rs28939714
Exac	rs28939714
Gnomad	rs28939714
Varsome	rs28939714
LitVar	rs28939714
Map	rs28939714
PheGenI	rs28939714
Biobank	rs28939714
1000 genomes	rs28939714
hgdp	rs28939714
ensembl	rs28939714
geneview	rs28939714
scholar	rs28939714
google	rs28939714
pharmgkb	rs28939714
gwascentral	rs28939714
openSNP	rs28939714
23andMe	rs28939714
SNPshot	rs28939714
SNPdbe	rs28939714
MSV3d	rs28939714
GWAS Ctlg	rs28939714

Max Magnitude

0

OMIM	603846
Desc	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28939714(G;G) rs28939714(T;T)
Alt	rs28939714(G;G) rs28939714(T;T)
Reference	Rs28939714(C;C)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	NDUFS3
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000011.9:g.47603692C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006390.2,