rs387907139

Orientation

minus

Stabilized

minus

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

Make rs387907139(C;T)

Make rs387907139(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

94994249

Gene

NDUFA12

is a	snp
is	mentioned by
dbSNP	rs387907139
dbSNP (classic)	rs387907139
ClinGen	rs387907139
ebi	rs387907139
HLI	rs387907139
Exac	rs387907139
Gnomad	rs387907139
Varsome	rs387907139
LitVar	rs387907139
Map	rs387907139
PheGenI	rs387907139
Biobank	rs387907139
1000 genomes	rs387907139
hgdp	rs387907139
ensembl	rs387907139
geneview	rs387907139
scholar	rs387907139
google	rs387907139
pharmgkb	rs387907139
gwascentral	rs387907139
openSNP	rs387907139
23andMe	rs387907139
SNPshot	rs387907139
SNPdbe	rs387907139
MSV3d	rs387907139
GWAS Ctlg	rs387907139

Max Magnitude

0

ClinVar
Risk	rs387907139(G;G) rs387907139(T;T)
Alt	rs387907139(G;G) rs387907139(T;T)
Reference	Rs387907139(C;C)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	NDUFA12
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency
Reversed	1
HGVS	NC_000012.11:g.95388025G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024206.2,