rs794726877
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794726877(A;A) |
Make rs794726877(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 987236 |
Gene | IDUA, SLC26A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794726877 |
dbSNP (classic) | rs794726877 |
ClinGen | rs794726877 |
ebi | rs794726877 |
HLI | rs794726877 |
Exac | rs794726877 |
Gnomad | rs794726877 |
Varsome | rs794726877 |
LitVar | rs794726877 |
Map | rs794726877 |
PheGenI | rs794726877 |
Biobank | rs794726877 |
1000 genomes | rs794726877 |
hgdp | rs794726877 |
ensembl | rs794726877 |
geneview | rs794726877 |
scholar | rs794726877 |
rs794726877 | |
pharmgkb | rs794726877 |
gwascentral | rs794726877 |
openSNP | rs794726877 |
23andMe | rs794726877 |
SNPshot | rs794726877 |
SNPdbe | rs794726877 |
MSV3d | rs794726877 |
GWAS Ctlg | rs794726877 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726877(A;A) |
Alt | rs794726877(A;A) |
Reference | Rs794726877(G;G) |
Significance | Pathogenic |
Disease | Hurler syndrome Mucopolysaccharidosis type I |
Variation | info |
Gene | SLC26A1 IDUA |
CLNDBN | Hurler syndrome Mucopolysaccharidosis type I |
Reversed | 0 |
HGVS | NC_000004.11:g.981024G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000173082.1, RCV000208594.1, |