rs797044605
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044605(-;-) |
Make rs797044605(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 43905770 |
Gene | LRPPRC |
is a | snp |
is | mentioned by |
dbSNP | rs797044605 |
dbSNP (classic) | rs797044605 |
ClinGen | rs797044605 |
ebi | rs797044605 |
HLI | rs797044605 |
Exac | rs797044605 |
Gnomad | rs797044605 |
Varsome | rs797044605 |
LitVar | rs797044605 |
Map | rs797044605 |
PheGenI | rs797044605 |
Biobank | rs797044605 |
1000 genomes | rs797044605 |
hgdp | rs797044605 |
ensembl | rs797044605 |
geneview | rs797044605 |
scholar | rs797044605 |
rs797044605 | |
pharmgkb | rs797044605 |
gwascentral | rs797044605 |
openSNP | rs797044605 |
23andMe | rs797044605 |
SNPshot | rs797044605 |
SNPdbe | rs797044605 |
MSV3d | rs797044605 |
GWAS Ctlg | rs797044605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044605(-;-) |
Alt | rs797044605(-;-) |
Reference | Rs797044605(C;C) |
Significance | Probable-Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | LRPPRC |
CLNDBN | Leigh syndrome, French Canadian type |
Reversed | 1 |
HGVS | NC_000002.11:g.44132909delG |
CLNSRC | |
CLNACC | RCV000194544.1, |