rs199476109

Orientation

plus

Stabilized

plus

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

Make rs199476109(C;C)

Make rs199476109(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14487

Gene

ND6

is a	snp
is	mentioned by
dbSNP	rs199476109
dbSNP (classic)	rs199476109
ClinGen	rs199476109
ebi	rs199476109
HLI	rs199476109
Exac	rs199476109
Gnomad	rs199476109
Varsome	rs199476109
LitVar	rs199476109
Map	rs199476109
PheGenI	rs199476109
Biobank	rs199476109
1000 genomes	rs199476109
hgdp	rs199476109
ensembl	rs199476109
geneview	rs199476109
scholar	rs199476109
google	rs199476109
pharmgkb	rs199476109
gwascentral	rs199476109
openSNP	rs199476109
23andMe	rs199476109
SNPshot	rs199476109
SNPdbe	rs199476109
MSV3d	rs199476109
GWAS Ctlg	rs199476109

Max Magnitude

0

ClinVar
Risk	rs199476109(C;C)
Alt	rs199476109(C;C)
Reference	Rs199476109(T;T)
Significance	Pathogenic
Disease	Leigh syndrome due to mitochondrial complex I deficiency Striatal necrosis Leigh syndrome
Variation	info
Gene	ND6
CLNDBN	Leigh syndrome due to mitochondrial complex I deficiency Striatal necrosis, bilateral, with dystonia Leigh syndrome
Reversed	0
HGVS	NC_012920.1:m.14487T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010333.2, RCV000010334.2, RCV000144020.2,