rs199476104
From SNPedia
Orientation | plus |
Stabilized | 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 |
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, |