rs199592341

Orientation

plus

Stabilized

plus

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

Make rs199592341(A;A)

Make rs199592341(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4685324

Gene

NDUFA9

is a	snp
is	mentioned by
dbSNP	rs199592341
dbSNP (classic)	rs199592341
ClinGen	rs199592341
ebi	rs199592341
HLI	rs199592341
Exac	rs199592341
Gnomad	rs199592341
Varsome	rs199592341
LitVar	rs199592341
Map	rs199592341
PheGenI	rs199592341
Biobank	rs199592341
1000 genomes	rs199592341
hgdp	rs199592341
ensembl	rs199592341
geneview	rs199592341
scholar	rs199592341
google	rs199592341
pharmgkb	rs199592341
gwascentral	rs199592341
openSNP	rs199592341
23andMe	rs199592341
SNPshot	rs199592341
SNPdbe	rs199592341
MSV3d	rs199592341
GWAS Ctlg	rs199592341

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs199592341(A;A) rs199592341(C;C)
Alt	rs199592341(A;A) rs199592341(C;C)
Reference	Rs199592341(G;G)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	NDUFA9
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000012.11:g.4794490G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023344.2,