rs587784438
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGG;AGG) | 0 | common in clinvar |
Make rs587784438(-;-) |
Make rs587784438(-;GAG) |
Make rs587784438(GAG;GAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 128627428 |
Gene | SPTAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784438 |
dbSNP (classic) | rs587784438 |
ClinGen | rs587784438 |
ebi | rs587784438 |
HLI | rs587784438 |
Exac | rs587784438 |
Gnomad | rs587784438 |
Varsome | rs587784438 |
LitVar | rs587784438 |
Map | rs587784438 |
PheGenI | rs587784438 |
Biobank | rs587784438 |
1000 genomes | rs587784438 |
hgdp | rs587784438 |
ensembl | rs587784438 |
geneview | rs587784438 |
scholar | rs587784438 |
rs587784438 | |
pharmgkb | rs587784438 |
gwascentral | rs587784438 |
openSNP | rs587784438 |
23andMe | rs587784438 |
SNPshot | rs587784438 |
SNPdbe | rs587784438 |
MSV3d | rs587784438 |
GWAS Ctlg | rs587784438 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784438(-;-) |
Alt | rs587784438(-;-) |
Reference | Rs587784438(AGG;AGG) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 5 not provided |
Variation | info |
Gene | SPTAN1 |
CLNDBN | Early infantile epileptic encephalopathy 5 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.131389707_131389709delGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000147650.3, RCV000189543.2, |