rs869025283
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs869025283(-;-) |
Make rs869025283(-;TCT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 104744181 |
Gene | HACE1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025283 |
dbSNP (classic) | rs869025283 |
ClinGen | rs869025283 |
ebi | rs869025283 |
HLI | rs869025283 |
Exac | rs869025283 |
Gnomad | rs869025283 |
Varsome | rs869025283 |
LitVar | rs869025283 |
Map | rs869025283 |
PheGenI | rs869025283 |
Biobank | rs869025283 |
1000 genomes | rs869025283 |
hgdp | rs869025283 |
ensembl | rs869025283 |
geneview | rs869025283 |
scholar | rs869025283 |
rs869025283 | |
pharmgkb | rs869025283 |
gwascentral | rs869025283 |
openSNP | rs869025283 |
23andMe | rs869025283 |
SNPshot | rs869025283 |
SNPdbe | rs869025283 |
MSV3d | rs869025283 |
GWAS Ctlg | rs869025283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025283(-;-) |
Alt | rs869025283(-;-) |
Reference | Rs869025283(TCT;TCT) |
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.105192056_105192058delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207174.1, |