rs587777052
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777052(G;T) |
Make rs587777052(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 3978099 |
Gene | EEF2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777052 |
dbSNP (classic) | rs587777052 |
ClinGen | rs587777052 |
ebi | rs587777052 |
HLI | rs587777052 |
Exac | rs587777052 |
Gnomad | rs587777052 |
Varsome | rs587777052 |
LitVar | rs587777052 |
Map | rs587777052 |
PheGenI | rs587777052 |
Biobank | rs587777052 |
1000 genomes | rs587777052 |
hgdp | rs587777052 |
ensembl | rs587777052 |
geneview | rs587777052 |
scholar | rs587777052 |
rs587777052 | |
pharmgkb | rs587777052 |
gwascentral | rs587777052 |
openSNP | rs587777052 |
23andMe | rs587777052 |
SNPshot | rs587777052 |
SNPdbe | rs587777052 |
MSV3d | rs587777052 |
GWAS Ctlg | rs587777052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777052(G;G) rs587777052(T;T) |
Alt | Rs587777052(G;G) rs587777052(T;T) |
Reference | Rs587777052(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 26 |
Variation | info |
Gene | EEF2 |
CLNDBN | Spinocerebellar ataxia 26 |
Reversed | 1 |
HGVS | NC_000019.9:g.3978097G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056312.25, |