rs769022521
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs769022521(-;T) |
Make rs769022521(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 43918025 |
Gene | LRPPRC |
is a | snp |
is | mentioned by |
dbSNP | rs769022521 |
dbSNP (classic) | rs769022521 |
ClinGen | rs769022521 |
ebi | rs769022521 |
HLI | rs769022521 |
Exac | rs769022521 |
Gnomad | rs769022521 |
Varsome | rs769022521 |
LitVar | rs769022521 |
Map | rs769022521 |
PheGenI | rs769022521 |
Biobank | rs769022521 |
1000 genomes | rs769022521 |
hgdp | rs769022521 |
ensembl | rs769022521 |
geneview | rs769022521 |
scholar | rs769022521 |
rs769022521 | |
pharmgkb | rs769022521 |
gwascentral | rs769022521 |
openSNP | rs769022521 |
23andMe | rs769022521 |
SNPshot | rs769022521 |
SNPdbe | rs769022521 |
MSV3d | rs769022521 |
GWAS Ctlg | rs769022521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769022521(T;T) |
Alt | rs769022521(T;T) |
Reference | Rs769022521(-;-) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | LRPPRC |
CLNDBN | Leigh syndrome, French Canadian type |
Reversed | 0 |
HGVS | NC_000002.11:g.44145165dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202391.2, |