rs1057519084

Orientation

plus

Stabilized

plus

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

Make rs1057519084(C;C)

Make rs1057519084(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

95032023

Gene

NDUFAF6

is a	snp
is	mentioned by
dbSNP	rs1057519084
dbSNP (classic)	rs1057519084
ClinGen	rs1057519084
ebi	rs1057519084
HLI	rs1057519084
Exac	rs1057519084
Gnomad	rs1057519084
Varsome	rs1057519084
LitVar	rs1057519084
Map	rs1057519084
PheGenI	rs1057519084
Biobank	rs1057519084
1000 genomes	rs1057519084
hgdp	rs1057519084
ensembl	rs1057519084
geneview	rs1057519084
scholar	rs1057519084
google	rs1057519084
pharmgkb	rs1057519084
gwascentral	rs1057519084
openSNP	rs1057519084
23andMe	rs1057519084
SNPshot	rs1057519084
SNPdbe	rs1057519084
MSV3d	rs1057519084
GWAS Ctlg	rs1057519084

Max Magnitude

0

ClinVar
Risk	rs1057519084(C;C)
Alt	rs1057519084(C;C)
Reference	Rs1057519084(T;T)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency
Variation	info
Gene	NDUFAF6
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000008.10:g.96044251T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412495.1,