rs199476117

Orientation

plus

Stabilized

plus

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

Make rs199476117(C;C)

Make rs199476117(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

10158

Gene

ND3

is a	snp
is	mentioned by
dbSNP	rs199476117
dbSNP (classic)	rs199476117
ClinGen	rs199476117
ebi	rs199476117
HLI	rs199476117
Exac	rs199476117
Gnomad	rs199476117
Varsome	rs199476117
LitVar	rs199476117
Map	rs199476117
PheGenI	rs199476117
Biobank	rs199476117
1000 genomes	rs199476117
hgdp	rs199476117
ensembl	rs199476117
geneview	rs199476117
scholar	rs199476117
google	rs199476117
pharmgkb	rs199476117
gwascentral	rs199476117
openSNP	rs199476117
23andMe	rs199476117
SNPshot	rs199476117
SNPdbe	rs199476117
MSV3d	rs199476117
GWAS Ctlg	rs199476117

Max Magnitude

0

ClinVar
Risk	rs199476117(C;C)
Alt	rs199476117(C;C)
Reference	Rs199476117(T;T)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency Leigh syndrome not provided
Variation	info
Gene	ND3
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency Leigh syndrome not provided
Reversed	0
HGVS	NC_012920.1:m.10158T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010360.2, RCV000010361.2, RCV000144009.2, RCV000224598.1,