rs690016544
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs690016544(A;G) |
Make rs690016544(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 681186 |
Gene | JMJD8, LOC105371184, STUB1 |
is a | snp |
is | mentioned by |
dbSNP | rs690016544 |
dbSNP (classic) | rs690016544 |
ClinGen | rs690016544 |
ebi | rs690016544 |
HLI | rs690016544 |
Exac | rs690016544 |
Gnomad | rs690016544 |
Varsome | rs690016544 |
LitVar | rs690016544 |
Map | rs690016544 |
PheGenI | rs690016544 |
Biobank | rs690016544 |
1000 genomes | rs690016544 |
hgdp | rs690016544 |
ensembl | rs690016544 |
geneview | rs690016544 |
scholar | rs690016544 |
rs690016544 | |
pharmgkb | rs690016544 |
gwascentral | rs690016544 |
openSNP | rs690016544 |
23andMe | rs690016544 |
SNPshot | rs690016544 |
SNPdbe | rs690016544 |
MSV3d | rs690016544 |
GWAS Ctlg | rs690016544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs690016544(G;G) |
Alt | rs690016544(G;G) |
Reference | Rs690016544(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.731186A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149509.4, |