rs201430951
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201430951(C;C) |
Make rs201430951(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 31599308 |
Gene | NUBPL |
is a | snp |
is | mentioned by |
dbSNP | rs201430951 |
dbSNP (classic) | rs201430951 |
ClinGen | rs201430951 |
ebi | rs201430951 |
HLI | rs201430951 |
Exac | rs201430951 |
Gnomad | rs201430951 |
Varsome | rs201430951 |
LitVar | rs201430951 |
Map | rs201430951 |
PheGenI | rs201430951 |
Biobank | rs201430951 |
1000 genomes | rs201430951 |
hgdp | rs201430951 |
ensembl | rs201430951 |
geneview | rs201430951 |
scholar | rs201430951 |
rs201430951 | |
pharmgkb | rs201430951 |
gwascentral | rs201430951 |
openSNP | rs201430951 |
23andMe | rs201430951 |
SNPshot | rs201430951 |
SNPdbe | rs201430951 |
MSV3d | rs201430951 |
GWAS Ctlg | rs201430951 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201430951(C;C) |
Alt | rs201430951(C;C) |
Reference | Rs201430951(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency Inborn genetic diseases |
Variation | info |
Gene | NUBPL |
CLNDBN | Mitochondrial complex I deficiency Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000014.8:g.32068514T>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191115.1, RCV000210568.1, |