rs398123447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123447(G;T) |
Make rs398123447(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 74718929 |
Gene | HEXB |
is a | snp |
is | mentioned by |
dbSNP | rs398123447 |
dbSNP (classic) | rs398123447 |
ClinGen | rs398123447 |
ebi | rs398123447 |
HLI | rs398123447 |
Exac | rs398123447 |
Gnomad | rs398123447 |
Varsome | rs398123447 |
LitVar | rs398123447 |
Map | rs398123447 |
PheGenI | rs398123447 |
Biobank | rs398123447 |
1000 genomes | rs398123447 |
hgdp | rs398123447 |
ensembl | rs398123447 |
geneview | rs398123447 |
scholar | rs398123447 |
rs398123447 | |
pharmgkb | rs398123447 |
gwascentral | rs398123447 |
openSNP | rs398123447 |
23andMe | rs398123447 |
SNPshot | rs398123447 |
SNPdbe | rs398123447 |
MSV3d | rs398123447 |
GWAS Ctlg | rs398123447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123447(T;T) |
Alt | rs398123447(T;T) |
Reference | Rs398123447(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Sandhoff disease |
Variation | info |
Gene | HEXB |
CLNDBN | not provided Sandhoff disease |
Reversed | 0 |
HGVS | NC_000005.9:g.74014754G>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000079059.3, RCV000174011.1, |