rs794727017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727017(C;G) |
Make rs794727017(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 1003349 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs794727017 |
dbSNP (classic) | rs794727017 |
ClinGen | rs794727017 |
ebi | rs794727017 |
HLI | rs794727017 |
Exac | rs794727017 |
Gnomad | rs794727017 |
Varsome | rs794727017 |
LitVar | rs794727017 |
Map | rs794727017 |
PheGenI | rs794727017 |
Biobank | rs794727017 |
1000 genomes | rs794727017 |
hgdp | rs794727017 |
ensembl | rs794727017 |
geneview | rs794727017 |
scholar | rs794727017 |
rs794727017 | |
pharmgkb | rs794727017 |
gwascentral | rs794727017 |
openSNP | rs794727017 |
23andMe | rs794727017 |
SNPshot | rs794727017 |
SNPdbe | rs794727017 |
MSV3d | rs794727017 |
GWAS Ctlg | rs794727017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727017(G;G) rs794727017(T;T) |
Alt | rs794727017(G;G) rs794727017(T;T) |
Reference | Rs794727017(C;C) |
Significance | Probable-Pathogenic |
Disease | Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.997137C>G |
CLNSRC | |
CLNACC | RCV000173985.1, |