rs587784441
From SNPedia
Merged into | rs587784440 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587784441(-;ACCAGCTGG) |
Make rs587784441(ACCAGCTGG;ACCAGCTGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 128632280 |
Gene | SPTAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784441 |
dbSNP (classic) | rs587784441 |
ClinGen | rs587784441 |
ebi | rs587784441 |
HLI | rs587784441 |
Exac | rs587784441 |
Gnomad | rs587784441 |
Varsome | rs587784441 |
LitVar | rs587784441 |
Map | rs587784441 |
PheGenI | rs587784441 |
Biobank | rs587784441 |
1000 genomes | rs587784441 |
hgdp | rs587784441 |
ensembl | rs587784441 |
geneview | rs587784441 |
scholar | rs587784441 |
rs587784441 | |
pharmgkb | rs587784441 |
gwascentral | rs587784441 |
openSNP | rs587784441 |
23andMe | rs587784441 |
SNPshot | rs587784441 |
SNPdbe | rs587784441 |
MSV3d | rs587784441 |
GWAS Ctlg | rs587784441 |
Status | Merged into rs587784440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784441(GGACCAGCT;GGACCAGCT) |
Alt | rs587784441(GGACCAGCT;GGACCAGCT) |
Reference | Rs587784441(;) |
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.131394551_131394559dupACCAGCTGG |
CLNSRC | |
CLNACC | RCV000147656.4, RCV000189556.1, |