rs770816416
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs770816416(A;A) |
Make rs770816416(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 4 |
Position | 185145867 |
Gene | SLC25A4 |
is a | snp |
is | mentioned by |
dbSNP | rs770816416 |
dbSNP (classic) | rs770816416 |
ClinGen | rs770816416 |
ebi | rs770816416 |
HLI | rs770816416 |
Exac | rs770816416 |
Gnomad | rs770816416 |
Varsome | rs770816416 |
LitVar | rs770816416 |
Map | rs770816416 |
PheGenI | rs770816416 |
Biobank | rs770816416 |
1000 genomes | rs770816416 |
hgdp | rs770816416 |
ensembl | rs770816416 |
geneview | rs770816416 |
scholar | rs770816416 |
rs770816416 | |
pharmgkb | rs770816416 |
gwascentral | rs770816416 |
openSNP | rs770816416 |
23andMe | rs770816416 |
SNPshot | rs770816416 |
SNPdbe | rs770816416 |
MSV3d | rs770816416 |
GWAS Ctlg | rs770816416 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770816416(A;A) rs770816416(C;C) |
Alt | rs770816416(A;A) rs770816416(C;C) |
Reference | Rs770816416(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type) |
Variation | info |
Gene | SLC25A4 |
CLNDBN | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive |
Reversed | 0 |
HGVS | NC_000004.11:g.186067021G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258878.1, |