rs397515564
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515564(C;C) |
Make rs397515564(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 125055601 |
Gene | KIAA0196, WASHC5 |
is a | snp |
is | mentioned by |
dbSNP | rs397515564 |
dbSNP (classic) | rs397515564 |
ClinGen | rs397515564 |
ebi | rs397515564 |
HLI | rs397515564 |
Exac | rs397515564 |
Gnomad | rs397515564 |
Varsome | rs397515564 |
LitVar | rs397515564 |
Map | rs397515564 |
PheGenI | rs397515564 |
Biobank | rs397515564 |
1000 genomes | rs397515564 |
hgdp | rs397515564 |
ensembl | rs397515564 |
geneview | rs397515564 |
scholar | rs397515564 |
rs397515564 | |
pharmgkb | rs397515564 |
gwascentral | rs397515564 |
openSNP | rs397515564 |
23andMe | rs397515564 |
SNPshot | rs397515564 |
SNPdbe | rs397515564 |
MSV3d | rs397515564 |
GWAS Ctlg | rs397515564 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515564(C;C) |
Alt | rs397515564(C;C) |
Reference | Rs397515564(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 8 |
Variation | info |
Gene | KIAA0196 |
CLNDBN | Spastic paraplegia 8 |
Reversed | 1 |
HGVS | NC_000008.10:g.126067843C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055943.4, |