rs373436822
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373436822(A;A) |
Make rs373436822(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 220126827 |
Gene | IARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs373436822 |
dbSNP (classic) | rs373436822 |
ClinGen | rs373436822 |
ebi | rs373436822 |
HLI | rs373436822 |
Exac | rs373436822 |
Gnomad | rs373436822 |
Varsome | rs373436822 |
LitVar | rs373436822 |
Map | rs373436822 |
PheGenI | rs373436822 |
Biobank | rs373436822 |
1000 genomes | rs373436822 |
hgdp | rs373436822 |
ensembl | rs373436822 |
geneview | rs373436822 |
scholar | rs373436822 |
rs373436822 | |
pharmgkb | rs373436822 |
gwascentral | rs373436822 |
openSNP | rs373436822 |
23andMe | rs373436822 |
SNPshot | rs373436822 |
SNPdbe | rs373436822 |
MSV3d | rs373436822 |
GWAS Ctlg | rs373436822 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373436822(A;A) |
Alt | rs373436822(A;A) |
Reference | Rs373436822(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome not provided |
Variation | info |
Gene | IARS2 |
CLNDBN | Leigh syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.220300169G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144716.1, RCV000144955.3, |