rs121434479

Orientation

plus

Stabilized

plus

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

Make rs121434479(A;A)

Make rs121434479(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1391144

Gene

NDUFS7

is a	snp
is	mentioned by
dbSNP	rs121434479
dbSNP (classic)	rs121434479
ClinGen	rs121434479
ebi	rs121434479
HLI	rs121434479
Exac	rs121434479
Gnomad	rs121434479
Varsome	rs121434479
LitVar	rs121434479
Map	rs121434479
PheGenI	rs121434479
Biobank	rs121434479
1000 genomes	rs121434479
hgdp	rs121434479
ensembl	rs121434479
geneview	rs121434479
scholar	rs121434479
google	rs121434479
pharmgkb	rs121434479
gwascentral	rs121434479
openSNP	rs121434479
23andMe	rs121434479
SNPshot	rs121434479
SNPdbe	rs121434479
MSV3d	rs121434479
GWAS Ctlg	rs121434479

Max Magnitude

0

OMIM	601825
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434479(A;A)
Alt	rs121434479(A;A)
Reference	Rs121434479(G;G)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	NDUFS7
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000019.9:g.1391143G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008121.3,