rs587777341
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777341(A;T) |
Make rs587777341(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 681468 |
Gene | JMJD8, LOC105371184, STUB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777341 |
dbSNP (classic) | rs587777341 |
ClinGen | rs587777341 |
ebi | rs587777341 |
HLI | rs587777341 |
Exac | rs587777341 |
Gnomad | rs587777341 |
Varsome | rs587777341 |
LitVar | rs587777341 |
Map | rs587777341 |
PheGenI | rs587777341 |
Biobank | rs587777341 |
1000 genomes | rs587777341 |
hgdp | rs587777341 |
ensembl | rs587777341 |
geneview | rs587777341 |
scholar | rs587777341 |
rs587777341 | |
pharmgkb | rs587777341 |
gwascentral | rs587777341 |
openSNP | rs587777341 |
23andMe | rs587777341 |
SNPshot | rs587777341 |
SNPdbe | rs587777341 |
MSV3d | rs587777341 |
GWAS Ctlg | rs587777341 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777341(T;T) |
Alt | rs587777341(T;T) |
Reference | Rs587777341(A;A) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | JMJD8 STUB1 LOC105371184 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 16 |
Reversed | 0 |
HGVS | NC_000016.9:g.731468A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000114999.3, |