rs397515475
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs397515475(-;-) |
Make rs397515475(-;TCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 111982045 |
Gene | KCND3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515475 |
dbSNP (classic) | rs397515475 |
ClinGen | rs397515475 |
ebi | rs397515475 |
HLI | rs397515475 |
Exac | rs397515475 |
Gnomad | rs397515475 |
Varsome | rs397515475 |
LitVar | rs397515475 |
Map | rs397515475 |
PheGenI | rs397515475 |
Biobank | rs397515475 |
1000 genomes | rs397515475 |
hgdp | rs397515475 |
ensembl | rs397515475 |
geneview | rs397515475 |
scholar | rs397515475 |
rs397515475 | |
pharmgkb | rs397515475 |
gwascentral | rs397515475 |
openSNP | rs397515475 |
23andMe | rs397515475 |
SNPshot | rs397515475 |
SNPdbe | rs397515475 |
MSV3d | rs397515475 |
GWAS Ctlg | rs397515475 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515475(-;-) |
Alt | rs397515475(-;-) |
Reference | Rs397515475(TCT;TCT) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 19 |
Variation | info |
Gene | KCND3 |
CLNDBN | Spinocerebellar ataxia 19 |
Reversed | 1 |
HGVS | NC_000001.10:g.112524667_112524669delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056298.3, |