rs794727701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727701(C;C) |
Make rs794727701(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 1001467 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs794727701 |
dbSNP (classic) | rs794727701 |
ClinGen | rs794727701 |
ebi | rs794727701 |
HLI | rs794727701 |
Exac | rs794727701 |
Gnomad | rs794727701 |
Varsome | rs794727701 |
LitVar | rs794727701 |
Map | rs794727701 |
PheGenI | rs794727701 |
Biobank | rs794727701 |
1000 genomes | rs794727701 |
hgdp | rs794727701 |
ensembl | rs794727701 |
geneview | rs794727701 |
scholar | rs794727701 |
rs794727701 | |
pharmgkb | rs794727701 |
gwascentral | rs794727701 |
openSNP | rs794727701 |
23andMe | rs794727701 |
SNPshot | rs794727701 |
SNPdbe | rs794727701 |
MSV3d | rs794727701 |
GWAS Ctlg | rs794727701 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727701(C;C) |
Alt | rs794727701(C;C) |
Reference | Rs794727701(G;G) |
Significance | Pathogenic |
Disease | Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.995255G>C |
CLNSRC | |
CLNACC | RCV000178734.1, |