rs397515508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515508(A;A) |
Make rs397515508(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3700 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515508 |
dbSNP (classic) | rs397515508 |
ClinGen | rs397515508 |
ebi | rs397515508 |
HLI | rs397515508 |
Exac | rs397515508 |
Gnomad | rs397515508 |
Varsome | rs397515508 |
LitVar | rs397515508 |
Map | rs397515508 |
PheGenI | rs397515508 |
Biobank | rs397515508 |
1000 genomes | rs397515508 |
hgdp | rs397515508 |
ensembl | rs397515508 |
geneview | rs397515508 |
scholar | rs397515508 |
rs397515508 | |
pharmgkb | rs397515508 |
gwascentral | rs397515508 |
openSNP | rs397515508 |
23andMe | rs397515508 |
SNPshot | rs397515508 |
SNPdbe | rs397515508 |
MSV3d | rs397515508 |
GWAS Ctlg | rs397515508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515508(A;A) |
Alt | rs397515508(A;A) |
Reference | Rs397515508(G;G) |
Significance | Pathogenic |
Disease | Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss |
Variation | info |
Gene | ND1 |
CLNDBN | Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss |
Reversed | 0 |
HGVS | NC_012920.1:m.3700G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055708.1, RCV000415448.1, |