rs794727091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs794727091(-;-) |
Make rs794727091(-;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 74720669 |
Gene | HEXB |
is a | snp |
is | mentioned by |
dbSNP | rs794727091 |
dbSNP (classic) | rs794727091 |
ClinGen | rs794727091 |
ebi | rs794727091 |
HLI | rs794727091 |
Exac | rs794727091 |
Gnomad | rs794727091 |
Varsome | rs794727091 |
LitVar | rs794727091 |
Map | rs794727091 |
PheGenI | rs794727091 |
Biobank | rs794727091 |
1000 genomes | rs794727091 |
hgdp | rs794727091 |
ensembl | rs794727091 |
geneview | rs794727091 |
scholar | rs794727091 |
rs794727091 | |
pharmgkb | rs794727091 |
gwascentral | rs794727091 |
openSNP | rs794727091 |
23andMe | rs794727091 |
SNPshot | rs794727091 |
SNPdbe | rs794727091 |
MSV3d | rs794727091 |
GWAS Ctlg | rs794727091 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727091(-;-) |
Alt | rs794727091(-;-) |
Reference | Rs794727091(GA;GA) |
Significance | Pathogenic |
Disease | Sandhoff disease |
Variation | info |
Gene | HEXB |
CLNDBN | Sandhoff disease |
Reversed | 0 |
HGVS | NC_000005.9:g.74016494_74016495delGA |
CLNSRC | |
CLNACC | RCV000174488.1, |