rs200911567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200911567(C;C) |
Make rs200911567(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11984 |
Gene | ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs200911567 |
dbSNP (classic) | rs200911567 |
ClinGen | rs200911567 |
ebi | rs200911567 |
HLI | rs200911567 |
Exac | rs200911567 |
Gnomad | rs200911567 |
Varsome | rs200911567 |
LitVar | rs200911567 |
Map | rs200911567 |
PheGenI | rs200911567 |
Biobank | rs200911567 |
1000 genomes | rs200911567 |
hgdp | rs200911567 |
ensembl | rs200911567 |
geneview | rs200911567 |
scholar | rs200911567 |
rs200911567 | |
pharmgkb | rs200911567 |
gwascentral | rs200911567 |
openSNP | rs200911567 |
23andMe | rs200911567 |
SNPshot | rs200911567 |
SNPdbe | rs200911567 |
MSV3d | rs200911567 |
GWAS Ctlg | rs200911567 |
Merged from | Rs587776439 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200911567(C;C) |
Alt | rs200911567(C;C) |
Reference | Rs200911567(T;T) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | ND4 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.11984T>C |
CLNSRC | |
CLNACC | RCV000144014.2, |