rs199648872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199648872(G;T) |
Make rs199648872(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 239961189 |
Gene | NDUFA10 |
is a | snp |
is | mentioned by |
dbSNP | rs199648872 |
dbSNP (classic) | rs199648872 |
ClinGen | rs199648872 |
ebi | rs199648872 |
HLI | rs199648872 |
Exac | rs199648872 |
Gnomad | rs199648872 |
Varsome | rs199648872 |
LitVar | rs199648872 |
Map | rs199648872 |
PheGenI | rs199648872 |
Biobank | rs199648872 |
1000 genomes | rs199648872 |
hgdp | rs199648872 |
ensembl | rs199648872 |
geneview | rs199648872 |
scholar | rs199648872 |
rs199648872 | |
pharmgkb | rs199648872 |
gwascentral | rs199648872 |
openSNP | rs199648872 |
23andMe | rs199648872 |
SNPshot | rs199648872 |
SNPdbe | rs199648872 |
MSV3d | rs199648872 |
GWAS Ctlg | rs199648872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199648872(C;C) rs199648872(T;T) |
Alt | rs199648872(C;C) rs199648872(T;T) |
Reference | Rs199648872(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Mitochondrial complex I deficiency Leigh syndrome |
Variation | info |
Gene | NDUFA10 |
CLNDBN | not provided Mitochondrial complex I deficiency Leigh syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.240900606G>C |
CLNSRC | |
CLNACC | RCV000199808.2, RCV000333603.1, RCV000388170.1, |