rs121434427

Orientation

plus

Stabilized

plus

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

Make rs121434427(A;A)

Make rs121434427(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161209912

Gene

NDUFS2

is a	snp
is	mentioned by
dbSNP	rs121434427
dbSNP (classic)	rs121434427
ClinGen	rs121434427
ebi	rs121434427
HLI	rs121434427
Exac	rs121434427
Gnomad	rs121434427
Varsome	rs121434427
LitVar	rs121434427
Map	rs121434427
PheGenI	rs121434427
Biobank	rs121434427
1000 genomes	rs121434427
hgdp	rs121434427
ensembl	rs121434427
geneview	rs121434427
scholar	rs121434427
google	rs121434427
pharmgkb	rs121434427
gwascentral	rs121434427
openSNP	rs121434427
23andMe	rs121434427
SNPshot	rs121434427
SNPdbe	rs121434427
MSV3d	rs121434427
GWAS Ctlg	rs121434427

Max Magnitude

0

OMIM	602985
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434427(A;A)
Alt	rs121434427(A;A)
Reference	Rs121434427(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFS2
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000001.10:g.161179702G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007101.2,