rs794726973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794726973(A;A) |
Make rs794726973(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 65967850 |
Gene | GUSB |
is a | snp |
is | mentioned by |
dbSNP | rs794726973 |
dbSNP (classic) | rs794726973 |
ClinGen | rs794726973 |
ebi | rs794726973 |
HLI | rs794726973 |
Exac | rs794726973 |
Gnomad | rs794726973 |
Varsome | rs794726973 |
LitVar | rs794726973 |
Map | rs794726973 |
PheGenI | rs794726973 |
Biobank | rs794726973 |
1000 genomes | rs794726973 |
hgdp | rs794726973 |
ensembl | rs794726973 |
geneview | rs794726973 |
scholar | rs794726973 |
rs794726973 | |
pharmgkb | rs794726973 |
gwascentral | rs794726973 |
openSNP | rs794726973 |
23andMe | rs794726973 |
SNPshot | rs794726973 |
SNPdbe | rs794726973 |
MSV3d | rs794726973 |
GWAS Ctlg | rs794726973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726973(A;A) |
Alt | rs794726973(A;A) |
Reference | Rs794726973(G;G) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis type VII |
Variation | info |
Gene | GUSB |
CLNDBN | Mucopolysaccharidosis type VII |
Reversed | 1 |
HGVS | NC_000007.13:g.65432837C>T |
CLNSRC | |
CLNACC | RCV000173654.1, |