rs587784353
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs587784353(-;-) |
Make rs587784353(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 38112211 |
Gene | BAIAP2L2, PLA2G6 |
is a | snp |
is | mentioned by |
dbSNP | rs587784353 |
dbSNP (classic) | rs587784353 |
ClinGen | rs587784353 |
ebi | rs587784353 |
HLI | rs587784353 |
Exac | rs587784353 |
Gnomad | rs587784353 |
Varsome | rs587784353 |
LitVar | rs587784353 |
Map | rs587784353 |
PheGenI | rs587784353 |
Biobank | rs587784353 |
1000 genomes | rs587784353 |
hgdp | rs587784353 |
ensembl | rs587784353 |
geneview | rs587784353 |
scholar | rs587784353 |
rs587784353 | |
pharmgkb | rs587784353 |
gwascentral | rs587784353 |
openSNP | rs587784353 |
23andMe | rs587784353 |
SNPshot | rs587784353 |
SNPdbe | rs587784353 |
MSV3d | rs587784353 |
GWAS Ctlg | rs587784353 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784353(-;-) |
Alt | rs587784353(-;-) |
Reference | Rs587784353(TG;TG) |
Significance | Pathogenic |
Disease | Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2b Iron accumulation in brain not provided |
Variation | info |
Gene | BAIAP2L2 PLA2G6 |
CLNDBN | Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2b Iron accumulation in brain not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.38508218_38508219delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006578.4, RCV000006579.4, RCV000147322.1, RCV000255768.1, |