rs1057519086

Orientation

plus

Stabilized

plus

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

Make rs1057519086(A;G)

Make rs1057519086(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

95052177

Gene

NDUFAF6

is a	snp
is	mentioned by
dbSNP	rs1057519086
dbSNP (classic)	rs1057519086
ClinGen	rs1057519086
ebi	rs1057519086
HLI	rs1057519086
Exac	rs1057519086
Gnomad	rs1057519086
Varsome	rs1057519086
LitVar	rs1057519086
Map	rs1057519086
PheGenI	rs1057519086
Biobank	rs1057519086
1000 genomes	rs1057519086
hgdp	rs1057519086
ensembl	rs1057519086
geneview	rs1057519086
scholar	rs1057519086
google	rs1057519086
pharmgkb	rs1057519086
gwascentral	rs1057519086
openSNP	rs1057519086
23andMe	rs1057519086
SNPshot	rs1057519086
SNPdbe	rs1057519086
MSV3d	rs1057519086
GWAS Ctlg	rs1057519086

Max Magnitude

0

ClinVar
Risk	rs1057519086(G;G)
Alt	rs1057519086(G;G)
Reference	Rs1057519086(A;A)
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.96064405A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412485.1,