rs764427452
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764427452(A;A) |
Make rs764427452(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 5545248 |
Gene | FARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs764427452 |
dbSNP (classic) | rs764427452 |
ClinGen | rs764427452 |
ebi | rs764427452 |
HLI | rs764427452 |
Exac | rs764427452 |
Gnomad | rs764427452 |
Varsome | rs764427452 |
LitVar | rs764427452 |
Map | rs764427452 |
PheGenI | rs764427452 |
Biobank | rs764427452 |
1000 genomes | rs764427452 |
hgdp | rs764427452 |
ensembl | rs764427452 |
geneview | rs764427452 |
scholar | rs764427452 |
rs764427452 | |
pharmgkb | rs764427452 |
gwascentral | rs764427452 |
openSNP | rs764427452 |
23andMe | rs764427452 |
SNPshot | rs764427452 |
SNPdbe | rs764427452 |
MSV3d | rs764427452 |
GWAS Ctlg | rs764427452 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764427452(A;A) rs764427452(T;T) |
Alt | rs764427452(A;A) rs764427452(T;T) |
Reference | Rs764427452(G;G) |
Significance | Pathogenic |
Disease | not provided Combined oxidative phosphorylation deficiency 14 |
Variation | info |
Gene | FARS2 |
CLNDBN | not provided Combined oxidative phosphorylation deficiency 14 |
Reversed | 0 |
HGVS | NC_000006.11:g.5545481G>A; NC_000006.11:g.5545481G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000421435.1, RCV000239485.1, |