rs121913659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913659(C;T) |
Make rs121913659(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 67612225 |
Gene | NDUFV1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913659 |
dbSNP (classic) | rs121913659 |
ClinGen | rs121913659 |
ebi | rs121913659 |
HLI | rs121913659 |
Exac | rs121913659 |
Gnomad | rs121913659 |
Varsome | rs121913659 |
LitVar | rs121913659 |
Map | rs121913659 |
PheGenI | rs121913659 |
Biobank | rs121913659 |
1000 genomes | rs121913659 |
hgdp | rs121913659 |
ensembl | rs121913659 |
geneview | rs121913659 |
scholar | rs121913659 |
rs121913659 | |
pharmgkb | rs121913659 |
gwascentral | rs121913659 |
openSNP | rs121913659 |
23andMe | rs121913659 |
SNPshot | rs121913659 |
SNPdbe | rs121913659 |
MSV3d | rs121913659 |
GWAS Ctlg | rs121913659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913659(T;T) |
Alt | rs121913659(T;T) |
Reference | Rs121913659(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency not provided |
Variation | info |
Gene | NDUFV1 |
CLNDBN | Mitochondrial complex I deficiency not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.67379696C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015100.23, RCV000200093.1, |