rs200726100
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200726100(C;G) |
Make rs200726100(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1001475 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs200726100 |
dbSNP (classic) | rs200726100 |
ClinGen | rs200726100 |
ebi | rs200726100 |
HLI | rs200726100 |
Exac | rs200726100 |
Gnomad | rs200726100 |
Varsome | rs200726100 |
LitVar | rs200726100 |
Map | rs200726100 |
PheGenI | rs200726100 |
Biobank | rs200726100 |
1000 genomes | rs200726100 |
hgdp | rs200726100 |
ensembl | rs200726100 |
geneview | rs200726100 |
scholar | rs200726100 |
rs200726100 | |
pharmgkb | rs200726100 |
gwascentral | rs200726100 |
openSNP | rs200726100 |
23andMe | rs200726100 |
SNPshot | rs200726100 |
SNPdbe | rs200726100 |
MSV3d | rs200726100 |
GWAS Ctlg | rs200726100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200726100(G;G) rs200726100(T;T) |
Alt | rs200726100(G;G) rs200726100(T;T) |
Reference | Rs200726100(C;C) |
Significance | Pathogenic |
Disease | not provided Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | not provided Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.995263C>G |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000078394.3, RCV000178733.1, |