rs587776439
From SNPedia
Merged into | rs200911567 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776439(C;C) |
Make rs587776439(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11984 |
Gene | MT-ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs587776439 |
dbSNP (classic) | rs587776439 |
ClinGen | rs587776439 |
ebi | rs587776439 |
HLI | rs587776439 |
Exac | rs587776439 |
Gnomad | rs587776439 |
Varsome | rs587776439 |
LitVar | rs587776439 |
Map | rs587776439 |
PheGenI | rs587776439 |
Biobank | rs587776439 |
1000 genomes | rs587776439 |
hgdp | rs587776439 |
ensembl | rs587776439 |
geneview | rs587776439 |
scholar | rs587776439 |
rs587776439 | |
pharmgkb | rs587776439 |
gwascentral | rs587776439 |
openSNP | rs587776439 |
23andMe | rs587776439 |
SNPshot | rs587776439 |
SNPdbe | rs587776439 |
MSV3d | rs587776439 |
GWAS Ctlg | rs587776439 |
Status | Merged into rs200911567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776439(C;C) |
Alt | rs587776439(C;C) |
Reference | Rs587776439(T;T) |
Significance | Pathogenic |
Disease | Leigh's disease |
Variation | info |
Gene | ND4 |
CLNDBN | Leigh's disease |
Reversed | 0 |
HGVS | NC_012920.1:m.11984T>C |
CLNSRC | |
CLNACC | RCV000144014.1, |