rs149271416
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149271416(A;A) |
Make rs149271416(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 206141981 |
Gene | NDUFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs149271416 |
dbSNP (classic) | rs149271416 |
ClinGen | rs149271416 |
ebi | rs149271416 |
HLI | rs149271416 |
Exac | rs149271416 |
Gnomad | rs149271416 |
Varsome | rs149271416 |
LitVar | rs149271416 |
Map | rs149271416 |
PheGenI | rs149271416 |
Biobank | rs149271416 |
1000 genomes | rs149271416 |
hgdp | rs149271416 |
ensembl | rs149271416 |
geneview | rs149271416 |
scholar | rs149271416 |
rs149271416 | |
pharmgkb | rs149271416 |
gwascentral | rs149271416 |
openSNP | rs149271416 |
23andMe | rs149271416 |
SNPshot | rs149271416 |
SNPdbe | rs149271416 |
MSV3d | rs149271416 |
GWAS Ctlg | rs149271416 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149271416(A;A) |
Alt | rs149271416(A;A) |
Reference | Rs149271416(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency not provided |
Variation | info |
Gene | NDUFS1 |
CLNDBN | Mitochondrial complex I deficiency not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.207006705G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043636.26, RCV000492968.1, |