rs780247476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780247476(A;A) |
Make rs780247476(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 23332970 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs780247476 |
dbSNP (classic) | rs780247476 |
ClinGen | rs780247476 |
ebi | rs780247476 |
HLI | rs780247476 |
Exac | rs780247476 |
Gnomad | rs780247476 |
Varsome | rs780247476 |
LitVar | rs780247476 |
Map | rs780247476 |
PheGenI | rs780247476 |
Biobank | rs780247476 |
1000 genomes | rs780247476 |
hgdp | rs780247476 |
ensembl | rs780247476 |
geneview | rs780247476 |
scholar | rs780247476 |
rs780247476 | |
pharmgkb | rs780247476 |
gwascentral | rs780247476 |
openSNP | rs780247476 |
23andMe | rs780247476 |
SNPshot | rs780247476 |
SNPdbe | rs780247476 |
MSV3d | rs780247476 |
GWAS Ctlg | rs780247476 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780247476(A;A) |
Alt | rs780247476(A;A) |
Reference | Rs780247476(G;G) |
Significance | Other |
Disease | Spastic ataxia Charlevoix-Saguenay type |
Variation | info |
Gene | SACS |
CLNDBN | Spastic ataxia Charlevoix-Saguenay type |
Reversed | 0 |
HGVS | NC_000013.10:g.23907109G>A |
CLNSRC | |
CLNACC | RCV000192438.1, |