rs878855011
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a spastic paraplegia type 15 mutation |
(C;C) | 0 | common in clinvar |
Make rs878855011(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 67785209 |
Gene | ZFYVE26 |
is a | snp |
is | mentioned by |
dbSNP | rs878855011 |
dbSNP (classic) | rs878855011 |
ClinGen | rs878855011 |
ebi | rs878855011 |
HLI | rs878855011 |
Exac | rs878855011 |
Gnomad | rs878855011 |
Varsome | rs878855011 |
LitVar | rs878855011 |
Map | rs878855011 |
PheGenI | rs878855011 |
Biobank | rs878855011 |
1000 genomes | rs878855011 |
hgdp | rs878855011 |
ensembl | rs878855011 |
geneview | rs878855011 |
scholar | rs878855011 |
rs878855011 | |
pharmgkb | rs878855011 |
gwascentral | rs878855011 |
openSNP | rs878855011 |
23andMe | rs878855011 |
SNPshot | rs878855011 |
SNPdbe | rs878855011 |
MSV3d | rs878855011 |
GWAS Ctlg | rs878855011 |
Max Magnitude | 3 |
aka c.3373delC, p.His1125Thrfs
see ZFYVE26
ClinVar | |
---|---|
Risk | rs878855011(-;-) |
Alt | rs878855011(-;-) |
Reference | Rs878855011(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia Spastic paraplegia 15 |
Variation | info |
Gene | ZFYVE26 |
CLNDBN | Spastic paraplegia Spastic paraplegia 15 |
Reversed | 1 |
HGVS | NC_000014.8:g.68251926delG |
CLNSRC | |
CLNACC | RCV000227975.1, RCV000272247.1, |