rs587777218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777218(A;A) |
Make rs587777218(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 5216622 |
Gene | LYRM4, LYRM4-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777218 |
dbSNP (classic) | rs587777218 |
ClinGen | rs587777218 |
ebi | rs587777218 |
HLI | rs587777218 |
Exac | rs587777218 |
Gnomad | rs587777218 |
Varsome | rs587777218 |
LitVar | rs587777218 |
Map | rs587777218 |
PheGenI | rs587777218 |
Biobank | rs587777218 |
1000 genomes | rs587777218 |
hgdp | rs587777218 |
ensembl | rs587777218 |
geneview | rs587777218 |
scholar | rs587777218 |
rs587777218 | |
pharmgkb | rs587777218 |
gwascentral | rs587777218 |
openSNP | rs587777218 |
23andMe | rs587777218 |
SNPshot | rs587777218 |
SNPdbe | rs587777218 |
MSV3d | rs587777218 |
GWAS Ctlg | rs587777218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777218(A;A) rs587777218(T;T) |
Alt | rs587777218(A;A) rs587777218(T;T) |
Reference | Rs587777218(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 19 |
Variation | info |
Gene | LYRM4-AS1 LYRM4 |
CLNDBN | Combined oxidative phosphorylation deficiency 19 |
Reversed | 0 |
HGVS | NC_000006.11:g.5216855C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000088687.3, |