rs863225443
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225443(C;C) |
Make rs863225443(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 43896633 |
Gene | LRPPRC |
is a | snp |
is | mentioned by |
dbSNP | rs863225443 |
dbSNP (classic) | rs863225443 |
ClinGen | rs863225443 |
ebi | rs863225443 |
HLI | rs863225443 |
Exac | rs863225443 |
Gnomad | rs863225443 |
Varsome | rs863225443 |
LitVar | rs863225443 |
Map | rs863225443 |
PheGenI | rs863225443 |
Biobank | rs863225443 |
1000 genomes | rs863225443 |
hgdp | rs863225443 |
ensembl | rs863225443 |
geneview | rs863225443 |
scholar | rs863225443 |
rs863225443 | |
pharmgkb | rs863225443 |
gwascentral | rs863225443 |
openSNP | rs863225443 |
23andMe | rs863225443 |
SNPshot | rs863225443 |
SNPdbe | rs863225443 |
MSV3d | rs863225443 |
GWAS Ctlg | rs863225443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225443(C;C) |
Alt | rs863225443(C;C) |
Reference | Rs863225443(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | LRPPRC |
CLNDBN | Leigh syndrome, French Canadian type |
Reversed | 1 |
HGVS | NC_000002.11:g.44123772C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202399.2, |