rs781798317
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs781798317(A;A) |
Make rs781798317(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 66221128 |
Gene | SLC25A26 |
is a | snp |
is | mentioned by |
dbSNP | rs781798317 |
dbSNP (classic) | rs781798317 |
ClinGen | rs781798317 |
ebi | rs781798317 |
HLI | rs781798317 |
Exac | rs781798317 |
Gnomad | rs781798317 |
Varsome | rs781798317 |
LitVar | rs781798317 |
Map | rs781798317 |
PheGenI | rs781798317 |
Biobank | rs781798317 |
1000 genomes | rs781798317 |
hgdp | rs781798317 |
ensembl | rs781798317 |
geneview | rs781798317 |
scholar | rs781798317 |
rs781798317 | |
pharmgkb | rs781798317 |
gwascentral | rs781798317 |
openSNP | rs781798317 |
23andMe | rs781798317 |
SNPshot | rs781798317 |
SNPdbe | rs781798317 |
MSV3d | rs781798317 |
GWAS Ctlg | rs781798317 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781798317(A;A) |
Alt | rs781798317(A;A) |
Reference | Rs781798317(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 28 |
Variation | info |
Gene | SLC25A26 |
CLNDBN | Combined oxidative phosphorylation deficiency 28 |
Reversed | 0 |
HGVS | NC_000003.11:g.66271554G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207470.1, |