rs199476105
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199476105(A;A) |
Make rs199476105(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 14459 |
Gene | ND6 |
is a | snp |
is | mentioned by |
dbSNP | rs199476105 |
dbSNP (classic) | rs199476105 |
ClinGen | rs199476105 |
ebi | rs199476105 |
HLI | rs199476105 |
Exac | rs199476105 |
Gnomad | rs199476105 |
Varsome | rs199476105 |
LitVar | rs199476105 |
Map | rs199476105 |
PheGenI | rs199476105 |
Biobank | rs199476105 |
1000 genomes | rs199476105 |
hgdp | rs199476105 |
ensembl | rs199476105 |
geneview | rs199476105 |
scholar | rs199476105 |
rs199476105 | |
pharmgkb | rs199476105 |
gwascentral | rs199476105 |
openSNP | rs199476105 |
23andMe | rs199476105 |
SNPshot | rs199476105 |
SNPdbe | rs199476105 |
MSV3d | rs199476105 |
GWAS Ctlg | rs199476105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476105(A;A) |
Alt | rs199476105(A;A) |
Reference | Rs199476105(G;G) |
Significance | Pathogenic |
Disease | Leber hereditary optic neuropathy with dystonia Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome |
Variation | info |
Gene | ND6 |
CLNDBN | Leber hereditary optic neuropathy with dystonia Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.14459G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010326.2, RCV000010327.2, RCV000010328.4, RCV000144019.2, |