rs119103245
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119103245(C;T) |
Make rs119103245(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 152213737 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs119103245 |
dbSNP (classic) | rs119103245 |
ClinGen | rs119103245 |
ebi | rs119103245 |
HLI | rs119103245 |
Exac | rs119103245 |
Gnomad | rs119103245 |
Varsome | rs119103245 |
LitVar | rs119103245 |
Map | rs119103245 |
PheGenI | rs119103245 |
Biobank | rs119103245 |
1000 genomes | rs119103245 |
hgdp | rs119103245 |
ensembl | rs119103245 |
geneview | rs119103245 |
scholar | rs119103245 |
rs119103245 | |
pharmgkb | rs119103245 |
gwascentral | rs119103245 |
openSNP | rs119103245 |
23andMe | rs119103245 |
SNPshot | rs119103245 |
SNPdbe | rs119103245 |
MSV3d | rs119103245 |
GWAS Ctlg | rs119103245 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103245(T;T) |
Alt | rs119103245(T;T) |
Reference | Rs119103245(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000006.11:g.152534872G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002420.3, |