rs121434428

Orientation

plus

Stabilized

plus

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

Make rs121434428(A;A)

Make rs121434428(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161209915

Gene

NDUFS2

is a	snp
is	mentioned by
dbSNP	rs121434428
dbSNP (classic)	rs121434428
ClinGen	rs121434428
ebi	rs121434428
HLI	rs121434428
Exac	rs121434428
Gnomad	rs121434428
Varsome	rs121434428
LitVar	rs121434428
Map	rs121434428
PheGenI	rs121434428
Biobank	rs121434428
1000 genomes	rs121434428
hgdp	rs121434428
ensembl	rs121434428
geneview	rs121434428
scholar	rs121434428
google	rs121434428
pharmgkb	rs121434428
gwascentral	rs121434428
openSNP	rs121434428
23andMe	rs121434428
SNPshot	rs121434428
SNPdbe	rs121434428
MSV3d	rs121434428
GWAS Ctlg	rs121434428

Max Magnitude

0

OMIM	602985
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434428(A;A)
Alt	rs121434428(A;A)
Reference	Rs121434428(C;C)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFS2
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000001.10:g.161179705C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007102.2,