rs587784344
From SNPedia
Merged into | rs587784343 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGT;TGT) | 0 | common in clinvar |
Make rs587784344(-;-) |
Make rs587784344(-;TGT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 38113617 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs587784344 |
dbSNP (classic) | rs587784344 |
ClinGen | rs587784344 |
ebi | rs587784344 |
HLI | rs587784344 |
Exac | rs587784344 |
Gnomad | rs587784344 |
Varsome | rs587784344 |
LitVar | rs587784344 |
Map | rs587784344 |
PheGenI | rs587784344 |
Biobank | rs587784344 |
1000 genomes | rs587784344 |
hgdp | rs587784344 |
ensembl | rs587784344 |
geneview | rs587784344 |
scholar | rs587784344 |
rs587784344 | |
pharmgkb | rs587784344 |
gwascentral | rs587784344 |
openSNP | rs587784344 |
23andMe | rs587784344 |
SNPshot | rs587784344 |
SNPdbe | rs587784344 |
MSV3d | rs587784344 |
GWAS Ctlg | rs587784344 |
Status | Merged into rs587784343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs587784344(TGT;TGT) |
Significance | Pathogenic |
Disease | Infantile neuroaxonal dystrophy Iron accumulation in brain |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy Iron accumulation in brain |
Reversed | 1 |
HGVS | NC_000022.10:g.38509624_38509626delACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006575.4, RCV000147311.3, |