rs28384199
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28384199(C;G) |
Make rs28384199(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11777 |
Gene | ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs28384199 |
dbSNP (classic) | rs28384199 |
ClinGen | rs28384199 |
ebi | rs28384199 |
HLI | rs28384199 |
Exac | rs28384199 |
Gnomad | rs28384199 |
Varsome | rs28384199 |
LitVar | rs28384199 |
Map | rs28384199 |
PheGenI | rs28384199 |
Biobank | rs28384199 |
1000 genomes | rs28384199 |
hgdp | rs28384199 |
ensembl | rs28384199 |
geneview | rs28384199 |
scholar | rs28384199 |
rs28384199 | |
pharmgkb | rs28384199 |
gwascentral | rs28384199 |
openSNP | rs28384199 |
23andMe | rs28384199 |
SNPshot | rs28384199 |
SNPdbe | rs28384199 |
MSV3d | rs28384199 |
GWAS Ctlg | rs28384199 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28384199(A;A) rs28384199(G;G) |
Alt | rs28384199(A;A) rs28384199(G;G) |
Reference | Rs28384199(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency Leigh syndrome |
Variation | info |
Gene | ND4 |
CLNDBN | Mitochondrial complex I deficiency Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.11777C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010357.5, RCV000144013.2, |