rs780991031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs780991031(A;A) |
Make rs780991031(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 152369497 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs780991031 |
dbSNP (classic) | rs780991031 |
ClinGen | rs780991031 |
ebi | rs780991031 |
HLI | rs780991031 |
Exac | rs780991031 |
Gnomad | rs780991031 |
Varsome | rs780991031 |
LitVar | rs780991031 |
Map | rs780991031 |
PheGenI | rs780991031 |
Biobank | rs780991031 |
1000 genomes | rs780991031 |
hgdp | rs780991031 |
ensembl | rs780991031 |
geneview | rs780991031 |
scholar | rs780991031 |
rs780991031 | |
pharmgkb | rs780991031 |
gwascentral | rs780991031 |
openSNP | rs780991031 |
23andMe | rs780991031 |
SNPshot | rs780991031 |
SNPdbe | rs780991031 |
MSV3d | rs780991031 |
GWAS Ctlg | rs780991031 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780991031(A;A) |
Alt | rs780991031(A;A) |
Reference | Rs780991031(T;T) |
Significance | Probable-Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 0 |
HGVS | NC_000006.11:g.152690632T>A |
CLNSRC | |
CLNACC | RCV000197641.1, |