rs869025282
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869025282(-;TTTAGGTATTTTTAGGTATT) |
Make rs869025282(TTTAGGTATTTTTAGGTATT;TTTAGGTATTTTTAGGTATT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 104771384 |
Gene | HACE1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025282 |
dbSNP (classic) | rs869025282 |
ClinGen | rs869025282 |
ebi | rs869025282 |
HLI | rs869025282 |
Exac | rs869025282 |
Gnomad | rs869025282 |
Varsome | rs869025282 |
LitVar | rs869025282 |
Map | rs869025282 |
PheGenI | rs869025282 |
Biobank | rs869025282 |
1000 genomes | rs869025282 |
hgdp | rs869025282 |
ensembl | rs869025282 |
geneview | rs869025282 |
scholar | rs869025282 |
rs869025282 | |
pharmgkb | rs869025282 |
gwascentral | rs869025282 |
openSNP | rs869025282 |
23andMe | rs869025282 |
SNPshot | rs869025282 |
SNPdbe | rs869025282 |
MSV3d | rs869025282 |
GWAS Ctlg | rs869025282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025282(TTTAGGTATTTTTAGGTATT;TTTAGGTATTTTTAGGTATT) |
Alt | rs869025282(TTTAGGTATTTTTAGGTATT;TTTAGGTATTTTTAGGTATT) |
Reference | Rs869025282(-;-) |
Significance | Pathogenic |
Disease | Spastic paraplegia and psychomotor retardation with or without seizures |
Variation | info |
Gene | HACE1 |
CLNDBN | Spastic paraplegia and psychomotor retardation with or without seizures |
Reversed | 1 |
HGVS | NC_000006.11:g.105219259_105219260insAATACCTAAAAATACCTAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207049.1, |