rs375098002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375098002(A;A) |
Make rs375098002(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 12351335 |
Gene | AFG3L2 |
is a | snp |
is | mentioned by |
dbSNP | rs375098002 |
dbSNP (classic) | rs375098002 |
ClinGen | rs375098002 |
ebi | rs375098002 |
HLI | rs375098002 |
Exac | rs375098002 |
Gnomad | rs375098002 |
Varsome | rs375098002 |
LitVar | rs375098002 |
Map | rs375098002 |
PheGenI | rs375098002 |
Biobank | rs375098002 |
1000 genomes | rs375098002 |
hgdp | rs375098002 |
ensembl | rs375098002 |
geneview | rs375098002 |
scholar | rs375098002 |
rs375098002 | |
pharmgkb | rs375098002 |
gwascentral | rs375098002 |
openSNP | rs375098002 |
23andMe | rs375098002 |
SNPshot | rs375098002 |
SNPdbe | rs375098002 |
MSV3d | rs375098002 |
GWAS Ctlg | rs375098002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375098002(A;A) |
Alt | rs375098002(A;A) |
Reference | Rs375098002(G;G) |
Significance | Probable-Pathogenic |
Disease | Spinocerebellar Ataxia |
Variation | info |
Gene | AFG3L2 |
CLNDBN | Spinocerebellar Ataxia, Dominant |
Reversed | 0 |
HGVS | NC_000018.9:g.12351334G>A |
CLNSRC | |
CLNACC | RCV000289354.1, |