rs587784327
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587784327(A;A) |
Make rs587784327(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 38129523 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs587784327 |
dbSNP (classic) | rs587784327 |
ClinGen | rs587784327 |
ebi | rs587784327 |
HLI | rs587784327 |
Exac | rs587784327 |
Gnomad | rs587784327 |
Varsome | rs587784327 |
LitVar | rs587784327 |
Map | rs587784327 |
PheGenI | rs587784327 |
Biobank | rs587784327 |
1000 genomes | rs587784327 |
hgdp | rs587784327 |
ensembl | rs587784327 |
geneview | rs587784327 |
scholar | rs587784327 |
rs587784327 | |
pharmgkb | rs587784327 |
gwascentral | rs587784327 |
openSNP | rs587784327 |
23andMe | rs587784327 |
SNPshot | rs587784327 |
SNPdbe | rs587784327 |
MSV3d | rs587784327 |
GWAS Ctlg | rs587784327 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784327(A;A) |
Alt | rs587784327(A;A) |
Reference | Rs587784327(G;G) |
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.38525530C>T |
CLNSRC | |
CLNACC | RCV000147283.1, RCV000199765.1, |