rs397515504
From SNPedia
Merged into | rs193302927 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397515504(C;C) |
Make rs397515504(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 10237 |
Gene | MT-ND3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515504 |
dbSNP (classic) | rs397515504 |
ClinGen | rs397515504 |
ebi | rs397515504 |
HLI | rs397515504 |
Exac | rs397515504 |
Gnomad | rs397515504 |
Varsome | rs397515504 |
LitVar | rs397515504 |
Map | rs397515504 |
PheGenI | rs397515504 |
Biobank | rs397515504 |
1000 genomes | rs397515504 |
hgdp | rs397515504 |
ensembl | rs397515504 |
geneview | rs397515504 |
scholar | rs397515504 |
rs397515504 | |
pharmgkb | rs397515504 |
gwascentral | rs397515504 |
openSNP | rs397515504 |
23andMe | rs397515504 |
SNPshot | rs397515504 |
SNPdbe | rs397515504 |
MSV3d | rs397515504 |
GWAS Ctlg | rs397515504 |
Status | Merged into rs193302927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515504(C;C) |
Alt | rs397515504(C;C) |
Reference | Rs397515504(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND3 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.10237T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055695.1, |