rs794727240
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs794727240(-;-) |
Make rs794727240(-;AC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 987841 |
Gene | IDUA, SLC26A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727240 |
dbSNP (classic) | rs794727240 |
ClinGen | rs794727240 |
ebi | rs794727240 |
HLI | rs794727240 |
Exac | rs794727240 |
Gnomad | rs794727240 |
Varsome | rs794727240 |
LitVar | rs794727240 |
Map | rs794727240 |
PheGenI | rs794727240 |
Biobank | rs794727240 |
1000 genomes | rs794727240 |
hgdp | rs794727240 |
ensembl | rs794727240 |
geneview | rs794727240 |
scholar | rs794727240 |
rs794727240 | |
pharmgkb | rs794727240 |
gwascentral | rs794727240 |
openSNP | rs794727240 |
23andMe | rs794727240 |
SNPshot | rs794727240 |
SNPdbe | rs794727240 |
MSV3d | rs794727240 |
GWAS Ctlg | rs794727240 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727240(-;-) |
Alt | rs794727240(-;-) |
Reference | Rs794727240(AC;AC) |
Significance | Pathogenic |
Disease | Hurler syndrome |
Variation | info |
Gene | SLC26A1 IDUA |
CLNDBN | Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.981629_981630delAC |
CLNSRC | |
CLNACC | RCV000175553.1, |