rs80338867
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338867(G;T) |
Make rs80338867(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 125056817 |
Gene | KIAA0196, WASHC5 |
is a | snp |
is | mentioned by |
dbSNP | rs80338867 |
dbSNP (classic) | rs80338867 |
ClinGen | rs80338867 |
ebi | rs80338867 |
HLI | rs80338867 |
Exac | rs80338867 |
Gnomad | rs80338867 |
Varsome | rs80338867 |
LitVar | rs80338867 |
Map | rs80338867 |
PheGenI | rs80338867 |
Biobank | rs80338867 |
1000 genomes | rs80338867 |
hgdp | rs80338867 |
ensembl | rs80338867 |
geneview | rs80338867 |
scholar | rs80338867 |
rs80338867 | |
pharmgkb | rs80338867 |
gwascentral | rs80338867 |
openSNP | rs80338867 |
23andMe | rs80338867 |
SNPshot | rs80338867 |
SNPdbe | rs80338867 |
MSV3d | rs80338867 |
GWAS Ctlg | rs80338867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338867(T;T) |
Alt | rs80338867(T;T) |
Reference | Rs80338867(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 8 Spastic paraplegia |
Variation | info |
Gene | KIAA0196 |
CLNDBN | Spastic paraplegia 8 Spastic paraplegia |
Reversed | 1 |
HGVS | NC_000008.10:g.126069059C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001220.2, RCV000469759.1, |
[PMID 17160902] Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.