rs794727577
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs794727577(-;-) |
Make rs794727577(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 152433883 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727577 |
dbSNP (classic) | rs794727577 |
ClinGen | rs794727577 |
ebi | rs794727577 |
HLI | rs794727577 |
Exac | rs794727577 |
Gnomad | rs794727577 |
Varsome | rs794727577 |
LitVar | rs794727577 |
Map | rs794727577 |
PheGenI | rs794727577 |
Biobank | rs794727577 |
1000 genomes | rs794727577 |
hgdp | rs794727577 |
ensembl | rs794727577 |
geneview | rs794727577 |
scholar | rs794727577 |
rs794727577 | |
pharmgkb | rs794727577 |
gwascentral | rs794727577 |
openSNP | rs794727577 |
23andMe | rs794727577 |
SNPshot | rs794727577 |
SNPdbe | rs794727577 |
MSV3d | rs794727577 |
GWAS Ctlg | rs794727577 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727577(-;-) |
Alt | rs794727577(-;-) |
Reference | Rs794727577(CT;CT) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000006.11:g.152755018_152755019delAG |
CLNSRC | |
CLNACC | RCV000177816.2, |