rs151344521
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151344521(A;A) |
Make rs151344521(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 12337435 |
Gene | AFG3L2, LOC107985154 |
is a | snp |
is | mentioned by |
dbSNP | rs151344521 |
dbSNP (classic) | rs151344521 |
ClinGen | rs151344521 |
ebi | rs151344521 |
HLI | rs151344521 |
Exac | rs151344521 |
Gnomad | rs151344521 |
Varsome | rs151344521 |
LitVar | rs151344521 |
Map | rs151344521 |
PheGenI | rs151344521 |
Biobank | rs151344521 |
1000 genomes | rs151344521 |
hgdp | rs151344521 |
ensembl | rs151344521 |
geneview | rs151344521 |
scholar | rs151344521 |
rs151344521 | |
pharmgkb | rs151344521 |
gwascentral | rs151344521 |
openSNP | rs151344521 |
23andMe | rs151344521 |
SNPshot | rs151344521 |
SNPdbe | rs151344521 |
MSV3d | rs151344521 |
GWAS Ctlg | rs151344521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151344521(A;A) |
Alt | rs151344521(A;A) |
Reference | Rs151344521(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 28 |
Variation | info |
Gene | AFG3L2 |
CLNDBN | Spinocerebellar ataxia 28 |
Reversed | 1 |
HGVS | NC_000018.9:g.12337434G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005806.3, |