rs774857058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs774857058(A;A) |
Make rs774857058(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 43918329 |
Gene | LRPPRC |
is a | snp |
is | mentioned by |
dbSNP | rs774857058 |
dbSNP (classic) | rs774857058 |
ClinGen | rs774857058 |
ebi | rs774857058 |
HLI | rs774857058 |
Exac | rs774857058 |
Gnomad | rs774857058 |
Varsome | rs774857058 |
LitVar | rs774857058 |
Map | rs774857058 |
PheGenI | rs774857058 |
Biobank | rs774857058 |
1000 genomes | rs774857058 |
hgdp | rs774857058 |
ensembl | rs774857058 |
geneview | rs774857058 |
scholar | rs774857058 |
rs774857058 | |
pharmgkb | rs774857058 |
gwascentral | rs774857058 |
openSNP | rs774857058 |
23andMe | rs774857058 |
SNPshot | rs774857058 |
SNPdbe | rs774857058 |
MSV3d | rs774857058 |
GWAS Ctlg | rs774857058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774857058(A;A) rs774857058(G;G) rs774857058(T;T) |
Alt | rs774857058(A;A) rs774857058(G;G) rs774857058(T;T) |
Reference | Rs774857058(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Leigh syndrome |
Variation | info |
Gene | LRPPRC |
CLNDBN | not provided Leigh syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.44145468C>T |
CLNSRC | |
CLNACC | RCV000198211.2, RCV000342224.1, |