rs397515506
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515506(C;T) |
Make rs397515506(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 14568 |
Gene | ND6 |
is a | snp |
is | mentioned by |
dbSNP | rs397515506 |
dbSNP (classic) | rs397515506 |
ClinGen | rs397515506 |
ebi | rs397515506 |
HLI | rs397515506 |
Exac | rs397515506 |
Gnomad | rs397515506 |
Varsome | rs397515506 |
LitVar | rs397515506 |
Map | rs397515506 |
PheGenI | rs397515506 |
Biobank | rs397515506 |
1000 genomes | rs397515506 |
hgdp | rs397515506 |
ensembl | rs397515506 |
geneview | rs397515506 |
scholar | rs397515506 |
rs397515506 | |
pharmgkb | rs397515506 |
gwascentral | rs397515506 |
openSNP | rs397515506 |
23andMe | rs397515506 |
SNPshot | rs397515506 |
SNPdbe | rs397515506 |
MSV3d | rs397515506 |
GWAS Ctlg | rs397515506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515506(T;T) |
Alt | rs397515506(T;T) |
Reference | Rs397515506(C;C) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND6 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.14568C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055703.1, |