rs587784329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587784329(-;-) |
Make rs587784329(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 38126447 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs587784329 |
dbSNP (classic) | rs587784329 |
ClinGen | rs587784329 |
ebi | rs587784329 |
HLI | rs587784329 |
Exac | rs587784329 |
Gnomad | rs587784329 |
Varsome | rs587784329 |
LitVar | rs587784329 |
Map | rs587784329 |
PheGenI | rs587784329 |
Biobank | rs587784329 |
1000 genomes | rs587784329 |
hgdp | rs587784329 |
ensembl | rs587784329 |
geneview | rs587784329 |
scholar | rs587784329 |
rs587784329 | |
pharmgkb | rs587784329 |
gwascentral | rs587784329 |
openSNP | rs587784329 |
23andMe | rs587784329 |
SNPshot | rs587784329 |
SNPdbe | rs587784329 |
MSV3d | rs587784329 |
GWAS Ctlg | rs587784329 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784329(-;-) |
Alt | rs587784329(-;-) |
Reference | Rs587784329(C;C) |
Significance | Pathogenic |
Disease | Iron accumulation in brain Infantile neuroaxonal dystrophy |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Iron accumulation in brain Infantile neuroaxonal dystrophy |
Reversed | 1 |
HGVS | NC_000022.10:g.38522454delG |
CLNSRC | |
CLNACC | RCV000147285.1, RCV000184033.1, |