rs104894393
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894393(C;C) |
Make rs104894393(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 101726785 |
Gene | FGF14 |
is a | snp |
is | mentioned by |
dbSNP | rs104894393 |
dbSNP (classic) | rs104894393 |
ClinGen | rs104894393 |
ebi | rs104894393 |
HLI | rs104894393 |
Exac | rs104894393 |
Gnomad | rs104894393 |
Varsome | rs104894393 |
LitVar | rs104894393 |
Map | rs104894393 |
PheGenI | rs104894393 |
Biobank | rs104894393 |
1000 genomes | rs104894393 |
hgdp | rs104894393 |
ensembl | rs104894393 |
geneview | rs104894393 |
scholar | rs104894393 |
rs104894393 | |
pharmgkb | rs104894393 |
gwascentral | rs104894393 |
openSNP | rs104894393 |
23andMe | rs104894393 |
SNPshot | rs104894393 |
SNPdbe | rs104894393 |
MSV3d | rs104894393 |
GWAS Ctlg | rs104894393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894393(C;C) |
Alt | rs104894393(C;C) |
Reference | Rs104894393(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 27 |
Variation | info |
Gene | FGF14 |
CLNDBN | Spinocerebellar ataxia 27 |
Reversed | 1 |
HGVS | NC_000013.10:g.102379135A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008584.2, |