rs397514617

Orientation

plus

Stabilized

plus

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

Make rs397514617(A;A)

Make rs397514617(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68036356

Gene

NDUFS8

is a	snp
is	mentioned by
dbSNP	rs397514617
dbSNP (classic)	rs397514617
ClinGen	rs397514617
ebi	rs397514617
HLI	rs397514617
Exac	rs397514617
Gnomad	rs397514617
Varsome	rs397514617
LitVar	rs397514617
Map	rs397514617
PheGenI	rs397514617
Biobank	rs397514617
1000 genomes	rs397514617
hgdp	rs397514617
ensembl	rs397514617
geneview	rs397514617
scholar	rs397514617
google	rs397514617
pharmgkb	rs397514617
gwascentral	rs397514617
openSNP	rs397514617
23andMe	rs397514617
SNPshot	rs397514617
SNPdbe	rs397514617
MSV3d	rs397514617
GWAS Ctlg	rs397514617

Max Magnitude

0

ClinVar
Risk	rs397514617(A;A)
Alt	rs397514617(A;A)
Reference	Rs397514617(C;C)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFS8
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000011.9:g.67803823C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033055.3,