rs587776442
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776442(C;C) |
Make rs587776442(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3928 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776442 |
dbSNP (classic) | rs587776442 |
ClinGen | rs587776442 |
ebi | rs587776442 |
HLI | rs587776442 |
Exac | rs587776442 |
Gnomad | rs587776442 |
Varsome | rs587776442 |
LitVar | rs587776442 |
Map | rs587776442 |
PheGenI | rs587776442 |
Biobank | rs587776442 |
1000 genomes | rs587776442 |
hgdp | rs587776442 |
ensembl | rs587776442 |
geneview | rs587776442 |
scholar | rs587776442 |
rs587776442 | |
pharmgkb | rs587776442 |
gwascentral | rs587776442 |
openSNP | rs587776442 |
23andMe | rs587776442 |
SNPshot | rs587776442 |
SNPdbe | rs587776442 |
MSV3d | rs587776442 |
GWAS Ctlg | rs587776442 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776442(C;C) |
Alt | rs587776442(C;C) |
Reference | Rs587776442(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | ND1 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.3928G>C |
CLNSRC | |
CLNACC | RCV000144023.2, |