rs199476116

Orientation

plus

Stabilized

plus

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

Make rs199476116(-;-)

Make rs199476116(-;AA)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

5132

Gene

ND2

is a	snp
is	mentioned by
dbSNP	rs199476116
dbSNP (classic)	rs199476116
ClinGen	rs199476116
ebi	rs199476116
HLI	rs199476116
Exac	rs199476116
Gnomad	rs199476116
Varsome	rs199476116
LitVar	rs199476116
Map	rs199476116
PheGenI	rs199476116
Biobank	rs199476116
1000 genomes	rs199476116
hgdp	rs199476116
ensembl	rs199476116
geneview	rs199476116
scholar	rs199476116
google	rs199476116
pharmgkb	rs199476116
gwascentral	rs199476116
openSNP	rs199476116
23andMe	rs199476116
SNPshot	rs199476116
SNPdbe	rs199476116
MSV3d	rs199476116
GWAS Ctlg	rs199476116

Max Magnitude

0

ClinVar
Risk	rs199476116(-;-)
Alt	rs199476116(-;-)
Reference	Rs199476116(AA;AA)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	ND2
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_012920.1:m.5132_5133delAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010367.2,