rs6831280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs6831280(A;A) |
Make rs6831280(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 1002377 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs6831280 |
dbSNP (classic) | rs6831280 |
ClinGen | rs6831280 |
ebi | rs6831280 |
HLI | rs6831280 |
Exac | rs6831280 |
Gnomad | rs6831280 |
Varsome | rs6831280 |
LitVar | rs6831280 |
Map | rs6831280 |
PheGenI | rs6831280 |
Biobank | rs6831280 |
1000 genomes | rs6831280 |
hgdp | rs6831280 |
ensembl | rs6831280 |
geneview | rs6831280 |
scholar | rs6831280 |
rs6831280 | |
pharmgkb | rs6831280 |
gwascentral | rs6831280 |
openSNP | rs6831280 |
23andMe | rs6831280 |
SNPshot | rs6831280 |
SNPdbe | rs6831280 |
MSV3d | rs6831280 |
GWAS Ctlg | rs6831280 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs6831280(A;A) |
Alt | rs6831280(A;A) |
Reference | Rs6831280(G;G) |
Significance | Non-pathogenic |
Disease | not specified Mucopolysaccharidosis type I |
Variation | info |
Gene | IDUA |
CLNDBN | not specified Mucopolysaccharidosis type I |
Reversed | 0 |
HGVS | NC_000004.11:g.996165G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000078371.6, RCV000332794.1, |