rs151344515
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs151344515(G;G) |
Make rs151344515(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 12337519 |
Gene | AFG3L2, LOC107985154 |
is a | snp |
is | mentioned by |
dbSNP | rs151344515 |
dbSNP (classic) | rs151344515 |
ClinGen | rs151344515 |
ebi | rs151344515 |
HLI | rs151344515 |
Exac | rs151344515 |
Gnomad | rs151344515 |
Varsome | rs151344515 |
LitVar | rs151344515 |
Map | rs151344515 |
PheGenI | rs151344515 |
Biobank | rs151344515 |
1000 genomes | rs151344515 |
hgdp | rs151344515 |
ensembl | rs151344515 |
geneview | rs151344515 |
scholar | rs151344515 |
rs151344515 | |
pharmgkb | rs151344515 |
gwascentral | rs151344515 |
openSNP | rs151344515 |
23andMe | rs151344515 |
SNPshot | rs151344515 |
SNPdbe | rs151344515 |
MSV3d | rs151344515 |
GWAS Ctlg | rs151344515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151344515(C;C) rs151344515(G;G) |
Alt | rs151344515(C;C) rs151344515(G;G) |
Reference | Rs151344515(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 28 |
Variation | info |
Gene | AFG3L2 |
CLNDBN | Spinocerebellar ataxia 28 |
Reversed | 1 |
HGVS | NC_000018.9:g.12337518A>C; NC_000018.9:g.12337518A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023377.3, RCV000031943.1, |