rs153477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs153477(A;G) |
Make rs153477(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 151259848 |
Gene | GM2A |
is a | snp |
is | mentioned by |
dbSNP | rs153477 |
dbSNP (classic) | rs153477 |
ClinGen | rs153477 |
ebi | rs153477 |
HLI | rs153477 |
Exac | rs153477 |
Gnomad | rs153477 |
Varsome | rs153477 |
LitVar | rs153477 |
Map | rs153477 |
PheGenI | rs153477 |
Biobank | rs153477 |
1000 genomes | rs153477 |
hgdp | rs153477 |
ensembl | rs153477 |
geneview | rs153477 |
scholar | rs153477 |
rs153477 | |
pharmgkb | rs153477 |
gwascentral | rs153477 |
openSNP | rs153477 |
23andMe | rs153477 |
SNPshot | rs153477 |
SNPdbe | rs153477 |
MSV3d | rs153477 |
GWAS Ctlg | rs153477 |
GMAF | 0.3618 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs153477(G;G) |
Alt | rs153477(G;G) |
Reference | Rs153477(A;A) |
Significance | Non-pathogenic |
Disease | not specified Tay-Sachs disease |
Variation | info |
Gene | GM2A |
CLNDBN | not specified Tay-Sachs disease, variant AB |
Reversed | 0 |
HGVS | NC_000005.9:g.150639409A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000153332.4, RCV000376352.1, |