rs797046024
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797046024(A;A) |
Make rs797046024(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 152318232 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs797046024 |
dbSNP (classic) | rs797046024 |
ClinGen | rs797046024 |
ebi | rs797046024 |
HLI | rs797046024 |
Exac | rs797046024 |
Gnomad | rs797046024 |
Varsome | rs797046024 |
LitVar | rs797046024 |
Map | rs797046024 |
PheGenI | rs797046024 |
Biobank | rs797046024 |
1000 genomes | rs797046024 |
hgdp | rs797046024 |
ensembl | rs797046024 |
geneview | rs797046024 |
scholar | rs797046024 |
rs797046024 | |
pharmgkb | rs797046024 |
gwascentral | rs797046024 |
openSNP | rs797046024 |
23andMe | rs797046024 |
SNPshot | rs797046024 |
SNPdbe | rs797046024 |
MSV3d | rs797046024 |
GWAS Ctlg | rs797046024 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046024(A;A) |
Alt | rs797046024(A;A) |
Reference | Rs797046024(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SYNE1 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000006.11:g.152639367G>T |
CLNSRC | |
CLNACC | RCV000193929.1, |