rs199476104

plus

Geno	Mag	Summary
(C;C)	4	Leber's Optic Atrophy
(T;T)	0	common in clinvar

Make rs199476104(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14484

Gene

ND6

is a	snp
is	mentioned by
dbSNP	rs199476104
dbSNP (classic)	rs199476104
ClinGen	rs199476104
ebi	rs199476104
HLI	rs199476104
Exac	rs199476104
Gnomad	rs199476104
Varsome	rs199476104
LitVar	rs199476104
Map	rs199476104
PheGenI	rs199476104
Biobank	rs199476104
1000 genomes	rs199476104
hgdp	rs199476104
ensembl	rs199476104
geneview	rs199476104
scholar	rs199476104
google	rs199476104
pharmgkb	rs199476104
gwascentral	rs199476104
openSNP	rs199476104
23andMe	rs199476104
SNPshot	rs199476104
SNPdbe	rs199476104
MSV3d	rs199476104
GWAS Ctlg	rs199476104

GMAF

0.0009355

Max Magnitude

4

rs199476104, also known as m.14484T>C, Met64Val and M64V, is a mutation in the mitochondrial ND6 MT-ND6 gene.

This is considered to be one of the three most common mutations in patients with Leber's optic atrophy; about 14% of all such patients carry the rs199476104(C) mutation. The penetrance is estimated to be 27-80% among relatives, and 68% in males.MitoMap

See also OMIM 516006.0001

23andMe makes up their own name for this SNP: i4000834.

Note: Old 23andMe data (pre-~2016; v3 chip data and earlier) may be problematic for certain mitochondrial SNPs, including this one, due to numbering differences in the major databases that have taken place since then.

ClinVar
Risk	Rs199476104(C;C)
Alt	Rs199476104(C;C)
Reference	Rs199476104(T;T)
Significance	Pathogenic
Disease	Leber's optic atrophy Leigh syndrome not provided
Variation	info
Gene	ND6
CLNDBN	Leber's optic atrophy Leigh syndrome not provided
Reversed	0
HGVS	NC_012920.1:m.14484T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010325.5, RCV000144018.2, RCV000223709.1,