rs370828455
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a spastic paraplegia type 15 mutation |
Make rs370828455(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 67782971 |
Gene | ZFYVE26 |
is a | snp |
is | mentioned by |
dbSNP | rs370828455 |
dbSNP (classic) | rs370828455 |
ClinGen | rs370828455 |
ebi | rs370828455 |
HLI | rs370828455 |
Exac | rs370828455 |
Gnomad | rs370828455 |
Varsome | rs370828455 |
LitVar | rs370828455 |
Map | rs370828455 |
PheGenI | rs370828455 |
Biobank | rs370828455 |
1000 genomes | rs370828455 |
hgdp | rs370828455 |
ensembl | rs370828455 |
geneview | rs370828455 |
scholar | rs370828455 |
rs370828455 | |
pharmgkb | rs370828455 |
gwascentral | rs370828455 |
openSNP | rs370828455 |
23andMe | rs370828455 |
SNPshot | rs370828455 |
SNPdbe | rs370828455 |
MSV3d | rs370828455 |
GWAS Ctlg | rs370828455 |
Max Magnitude | 3 |
aka c.4181G>A, p.Trp1394Ter and W1394X
see ZFYVE26
ClinVar | |
---|---|
Risk | rs370828455(T;T) |
Alt | rs370828455(T;T) |
Reference | Rs370828455(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 15 |
Variation | info |
Gene | ZFYVE26 |
CLNDBN | Spastic paraplegia 15 |
Reversed | 0 |
HGVS | NC_000014.8:g.68249688C>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191149.1, |