rs606231135
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs606231135(-;-) |
Make rs606231135(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 152347227 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231135 |
dbSNP (classic) | rs606231135 |
ClinGen | rs606231135 |
ebi | rs606231135 |
HLI | rs606231135 |
Exac | rs606231135 |
Gnomad | rs606231135 |
Varsome | rs606231135 |
LitVar | rs606231135 |
Map | rs606231135 |
PheGenI | rs606231135 |
Biobank | rs606231135 |
1000 genomes | rs606231135 |
hgdp | rs606231135 |
ensembl | rs606231135 |
geneview | rs606231135 |
scholar | rs606231135 |
rs606231135 | |
pharmgkb | rs606231135 |
gwascentral | rs606231135 |
openSNP | rs606231135 |
23andMe | rs606231135 |
SNPshot | rs606231135 |
SNPdbe | rs606231135 |
MSV3d | rs606231135 |
GWAS Ctlg | rs606231135 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231135(-;-) |
Alt | rs606231135(-;-) |
Reference | Rs606231135(TG;TG) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000006.11:g.152668362_152668363delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002421.3, |