rs199422224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199422224(A;G) |
Make rs199422224(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 206145009 |
Gene | NDUFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs199422224 |
dbSNP (classic) | rs199422224 |
ClinGen | rs199422224 |
ebi | rs199422224 |
HLI | rs199422224 |
Exac | rs199422224 |
Gnomad | rs199422224 |
Varsome | rs199422224 |
LitVar | rs199422224 |
Map | rs199422224 |
PheGenI | rs199422224 |
Biobank | rs199422224 |
1000 genomes | rs199422224 |
hgdp | rs199422224 |
ensembl | rs199422224 |
geneview | rs199422224 |
scholar | rs199422224 |
rs199422224 | |
pharmgkb | rs199422224 |
gwascentral | rs199422224 |
openSNP | rs199422224 |
23andMe | rs199422224 |
SNPshot | rs199422224 |
SNPdbe | rs199422224 |
MSV3d | rs199422224 |
GWAS Ctlg | rs199422224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422224(G;G) |
Alt | rs199422224(G;G) |
Reference | Rs199422224(A;A) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency not provided |
Variation | info |
Gene | NDUFS1 |
CLNDBN | Mitochondrial complex I deficiency not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.207009733T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015299.27, RCV000198207.1, |