rs104893899
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893899(A;A) |
Make rs104893899(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 53560706 |
Gene | NDUFS4 |
is a | snp |
is | mentioned by |
dbSNP | rs104893899 |
dbSNP (classic) | rs104893899 |
ClinGen | rs104893899 |
ebi | rs104893899 |
HLI | rs104893899 |
Exac | rs104893899 |
Gnomad | rs104893899 |
Varsome | rs104893899 |
LitVar | rs104893899 |
Map | rs104893899 |
PheGenI | rs104893899 |
Biobank | rs104893899 |
1000 genomes | rs104893899 |
hgdp | rs104893899 |
ensembl | rs104893899 |
geneview | rs104893899 |
scholar | rs104893899 |
rs104893899 | |
pharmgkb | rs104893899 |
gwascentral | rs104893899 |
openSNP | rs104893899 |
23andMe | rs104893899 |
SNPshot | rs104893899 |
SNPdbe | rs104893899 |
MSV3d | rs104893899 |
GWAS Ctlg | rs104893899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893899(A;A) |
Alt | rs104893899(A;A) |
Reference | Rs104893899(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency |
Variation | info |
Gene | NDUFS4 |
CLNDBN | Mitochondrial complex I deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.52856536G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007293.2, |