rs762411583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762411583(A;A) |
Make rs762411583(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 1001672 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs762411583 |
dbSNP (classic) | rs762411583 |
ClinGen | rs762411583 |
ebi | rs762411583 |
HLI | rs762411583 |
Exac | rs762411583 |
Gnomad | rs762411583 |
Varsome | rs762411583 |
LitVar | rs762411583 |
Map | rs762411583 |
PheGenI | rs762411583 |
Biobank | rs762411583 |
1000 genomes | rs762411583 |
hgdp | rs762411583 |
ensembl | rs762411583 |
geneview | rs762411583 |
scholar | rs762411583 |
rs762411583 | |
pharmgkb | rs762411583 |
gwascentral | rs762411583 |
openSNP | rs762411583 |
23andMe | rs762411583 |
SNPshot | rs762411583 |
SNPdbe | rs762411583 |
MSV3d | rs762411583 |
GWAS Ctlg | rs762411583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762411583(A;A) |
Alt | rs762411583(A;A) |
Reference | Rs762411583(G;G) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis type I |
Variation | info |
Gene | IDUA |
CLNDBN | Mucopolysaccharidosis type I |
Reversed | 0 |
HGVS | NC_000004.11:g.995460G>A |
CLNSRC | |
CLNACC | RCV000208601.1, |