rs387906872
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906872(A;G) |
Make rs387906872(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240025301 |
Gene | NDUFA10 |
is a | snp |
is | mentioned by |
dbSNP | rs387906872 |
dbSNP (classic) | rs387906872 |
ClinGen | rs387906872 |
ebi | rs387906872 |
HLI | rs387906872 |
Exac | rs387906872 |
Gnomad | rs387906872 |
Varsome | rs387906872 |
LitVar | rs387906872 |
Map | rs387906872 |
PheGenI | rs387906872 |
Biobank | rs387906872 |
1000 genomes | rs387906872 |
hgdp | rs387906872 |
ensembl | rs387906872 |
geneview | rs387906872 |
scholar | rs387906872 |
rs387906872 | |
pharmgkb | rs387906872 |
gwascentral | rs387906872 |
openSNP | rs387906872 |
23andMe | rs387906872 |
SNPshot | rs387906872 |
SNPdbe | rs387906872 |
MSV3d | rs387906872 |
GWAS Ctlg | rs387906872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906872(G;G) |
Alt | rs387906872(G;G) |
Reference | Rs387906872(A;A) |
Significance | Pathogenic |
Disease | Leigh syndrome due to mitochondrial complex I deficiency |
Variation | info |
Gene | NDUFA10 |
CLNDBN | Leigh syndrome due to mitochondrial complex I deficiency |
Reversed | 1 |
HGVS | NC_000002.11:g.240964718T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023345.4, |