rs587784343
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTT;GTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGT;TGT) | 0 | common in clinvar |
Make rs587784343(-;-) |
Make rs587784343(-;GTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 38113619 |
Gene | PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs587784343 |
dbSNP (classic) | rs587784343 |
ClinGen | rs587784343 |
ebi | rs587784343 |
HLI | rs587784343 |
Exac | rs587784343 |
Gnomad | rs587784343 |
Varsome | rs587784343 |
LitVar | rs587784343 |
Map | rs587784343 |
PheGenI | rs587784343 |
Biobank | rs587784343 |
1000 genomes | rs587784343 |
hgdp | rs587784343 |
ensembl | rs587784343 |
geneview | rs587784343 |
scholar | rs587784343 |
rs587784343 | |
pharmgkb | rs587784343 |
gwascentral | rs587784343 |
openSNP | rs587784343 |
23andMe | rs587784343 |
SNPshot | rs587784343 |
SNPdbe | rs587784343 |
MSV3d | rs587784343 |
GWAS Ctlg | rs587784343 |
Merged from | Rs587784344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587784343(TGT;TGT) rs587784343(-;-) |
Alt | Rs587784343(TGT;TGT) rs587784343(-;-) |
Reference | Rs587784343(GTT;GTT) |
Significance | Pathogenic |
Disease | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Variation | info |
Gene | PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.38509624_38509626delACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006575.4, RCV000147311.3, RCV000480455.1, |