rs587777026
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCTCA;CCTCA) | 0 | common in clinvar |
(CCTCAG;CCTCAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGAGG;TGAGG) | 0 | common in clinvar |
Make rs587777026(-;-) |
Make rs587777026(-;TGAGG) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 66701231 |
Gene | SPTBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777026 |
dbSNP (classic) | rs587777026 |
ClinGen | rs587777026 |
ebi | rs587777026 |
HLI | rs587777026 |
Exac | rs587777026 |
Gnomad | rs587777026 |
Varsome | rs587777026 |
LitVar | rs587777026 |
Map | rs587777026 |
PheGenI | rs587777026 |
Biobank | rs587777026 |
1000 genomes | rs587777026 |
hgdp | rs587777026 |
ensembl | rs587777026 |
geneview | rs587777026 |
scholar | rs587777026 |
rs587777026 | |
pharmgkb | rs587777026 |
gwascentral | rs587777026 |
openSNP | rs587777026 |
23andMe | rs587777026 |
SNPshot | rs587777026 |
SNPdbe | rs587777026 |
MSV3d | rs587777026 |
GWAS Ctlg | rs587777026 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777026(TGAGG;TGAGG) rs587777026(-;-) |
Alt | Rs587777026(TGAGG;TGAGG) rs587777026(-;-) |
Reference | Rs587777026(CCTCA;CCTCA) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SPTBN2 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 14 |
Reversed | 1 |
HGVS | NC_000011.9:g.66468702_66468706delTGAGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054555.4, |