rs397515447

Orientation

minus

Stabilized

minus

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

Make rs397515447(A;A)

Make rs397515447(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

206127826

Gene

NDUFS1

is a	snp
is	mentioned by
dbSNP	rs397515447
dbSNP (classic)	rs397515447
ClinGen	rs397515447
ebi	rs397515447
HLI	rs397515447
Exac	rs397515447
Gnomad	rs397515447
Varsome	rs397515447
LitVar	rs397515447
Map	rs397515447
PheGenI	rs397515447
Biobank	rs397515447
1000 genomes	rs397515447
hgdp	rs397515447
ensembl	rs397515447
geneview	rs397515447
scholar	rs397515447
google	rs397515447
pharmgkb	rs397515447
gwascentral	rs397515447
openSNP	rs397515447
23andMe	rs397515447
SNPshot	rs397515447
SNPdbe	rs397515447
MSV3d	rs397515447
GWAS Ctlg	rs397515447

Max Magnitude

0

ClinVar
Risk	rs397515447(A;A)
Alt	rs397515447(A;A)
Reference	Rs397515447(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFS1
CLNDBN	Mitochondrial complex I deficiency
Reversed	1
HGVS	NC_000002.11:g.206992550C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043634.27,