rs267606893
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | Ancestry miscall in all likelihood |
(T;T) | 0 | common in clinvar |
Make rs267606893(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 12706 |
Gene | ND5 |
is a | snp |
is | mentioned by |
dbSNP | rs267606893 |
dbSNP (classic) | rs267606893 |
ClinGen | rs267606893 |
ebi | rs267606893 |
HLI | rs267606893 |
Exac | rs267606893 |
Gnomad | rs267606893 |
Varsome | rs267606893 |
LitVar | rs267606893 |
Map | rs267606893 |
PheGenI | rs267606893 |
Biobank | rs267606893 |
1000 genomes | rs267606893 |
hgdp | rs267606893 |
ensembl | rs267606893 |
geneview | rs267606893 |
scholar | rs267606893 |
rs267606893 | |
pharmgkb | rs267606893 |
gwascentral | rs267606893 |
openSNP | rs267606893 |
23andMe | rs267606893 |
SNPshot | rs267606893 |
SNPdbe | rs267606893 |
MSV3d | rs267606893 |
GWAS Ctlg | rs267606893 |
Merged from | Rs2854122 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs267606893(C;C) |
Alt | Rs267606893(C;C) |
Reference | Rs267606893(T;T) |
Significance | Pathogenic |
Disease | Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome |
Variation | info |
Gene | ND5 |
CLNDBN | Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.12706T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010338.2, RCV000144015.2, |