rs28939679

Orientation

plus

Stabilized

plus

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

Make rs28939679(C;T)

Make rs28939679(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68033147

Gene	MIR4691, MIR7113, NDUFS8

is a	snp
is	mentioned by
dbSNP	rs28939679
dbSNP (classic)	rs28939679
ClinGen	rs28939679
ebi	rs28939679
HLI	rs28939679
Exac	rs28939679
Gnomad	rs28939679
Varsome	rs28939679
LitVar	rs28939679
Map	rs28939679
PheGenI	rs28939679
Biobank	rs28939679
1000 genomes	rs28939679
hgdp	rs28939679
ensembl	rs28939679
geneview	rs28939679
scholar	rs28939679
google	rs28939679
pharmgkb	rs28939679
gwascentral	rs28939679
openSNP	rs28939679
23andMe	rs28939679
SNPshot	rs28939679
SNPdbe	rs28939679
MSV3d	rs28939679
GWAS Ctlg	rs28939679

Max Magnitude

0

OMIM	602141
Desc	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28939679(T;T)
Alt	rs28939679(T;T)
Reference	Rs28939679(C;C)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency not provided
Variation	info
Gene	MIR7113 MIR4691 NDUFS8
CLNDBN	Mitochondrial complex I deficiency not provided
Reversed	0
HGVS	NC_000011.9:g.67800614C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007941.3, RCV000442702.1,