rs370471013
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs370471013(C;C) |
Make rs370471013(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 5559 |
is a | snp |
is | mentioned by |
dbSNP | rs370471013 |
dbSNP (classic) | rs370471013 |
ClinGen | rs370471013 |
ebi | rs370471013 |
HLI | rs370471013 |
Exac | rs370471013 |
Gnomad | rs370471013 |
Varsome | rs370471013 |
LitVar | rs370471013 |
Map | rs370471013 |
PheGenI | rs370471013 |
Biobank | rs370471013 |
1000 genomes | rs370471013 |
hgdp | rs370471013 |
ensembl | rs370471013 |
geneview | rs370471013 |
scholar | rs370471013 |
rs370471013 | |
pharmgkb | rs370471013 |
gwascentral | rs370471013 |
openSNP | rs370471013 |
23andMe | rs370471013 |
SNPshot | rs370471013 |
SNPdbe | rs370471013 |
MSV3d | rs370471013 |
GWAS Ctlg | rs370471013 |
Merged from | Rs587776436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370471013(C;C) |
Alt | rs370471013(C;C) |
Reference | Rs370471013(T;T) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | |
CLNDBN | Leigh syndrome |
Reversed | 1 |
HGVS | NC_012920.1:m.5559A>G |
CLNSRC | |
CLNACC | RCV000144003.2, |