rs863224929
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTTATTTCAGA;GTTATTTCAGA) | 0 | common in clinvar |
Make rs863224929(C;C) |
Make rs863224929(C;GTTATTTCAGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 152449641 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224929 |
dbSNP (classic) | rs863224929 |
ClinGen | rs863224929 |
ebi | rs863224929 |
HLI | rs863224929 |
Exac | rs863224929 |
Gnomad | rs863224929 |
Varsome | rs863224929 |
LitVar | rs863224929 |
Map | rs863224929 |
PheGenI | rs863224929 |
Biobank | rs863224929 |
1000 genomes | rs863224929 |
hgdp | rs863224929 |
ensembl | rs863224929 |
geneview | rs863224929 |
scholar | rs863224929 |
rs863224929 | |
pharmgkb | rs863224929 |
gwascentral | rs863224929 |
openSNP | rs863224929 |
23andMe | rs863224929 |
SNPshot | rs863224929 |
SNPdbe | rs863224929 |
MSV3d | rs863224929 |
GWAS Ctlg | rs863224929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224929(C;C) |
Alt | rs863224929(C;C) |
Reference | Rs863224929(GTTATTTCAGA;GTTATTTCAGA) |
Significance | Probable-Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000006.11:g.152770776_152770786delTCTGAAATAACinsG |
CLNSRC | |
CLNACC | RCV000196238.1, |