rs727505361
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727505361(A;A) |
Make rs727505361(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 110683051 |
Gene | CARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs727505361 |
dbSNP (classic) | rs727505361 |
ClinGen | rs727505361 |
ebi | rs727505361 |
HLI | rs727505361 |
Exac | rs727505361 |
Gnomad | rs727505361 |
Varsome | rs727505361 |
LitVar | rs727505361 |
Map | rs727505361 |
PheGenI | rs727505361 |
Biobank | rs727505361 |
1000 genomes | rs727505361 |
hgdp | rs727505361 |
ensembl | rs727505361 |
geneview | rs727505361 |
scholar | rs727505361 |
rs727505361 | |
pharmgkb | rs727505361 |
gwascentral | rs727505361 |
openSNP | rs727505361 |
23andMe | rs727505361 |
SNPshot | rs727505361 |
SNPdbe | rs727505361 |
MSV3d | rs727505361 |
GWAS Ctlg | rs727505361 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505361(A;A) |
Alt | rs727505361(A;A) |
Reference | Rs727505361(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 27 not provided |
Variation | info |
Gene | CARS2 |
CLNDBN | Combined oxidative phosphorylation deficiency 27 not provided |
Reversed | 1 |
HGVS | NC_000013.10:g.111335398C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000156934.4, RCV000494053.1, |