rs368454909
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs368454909(A;A) |
Make rs368454909(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1002341 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs368454909 |
dbSNP (classic) | rs368454909 |
ClinGen | rs368454909 |
ebi | rs368454909 |
HLI | rs368454909 |
Exac | rs368454909 |
Gnomad | rs368454909 |
Varsome | rs368454909 |
LitVar | rs368454909 |
Map | rs368454909 |
PheGenI | rs368454909 |
Biobank | rs368454909 |
1000 genomes | rs368454909 |
hgdp | rs368454909 |
ensembl | rs368454909 |
geneview | rs368454909 |
scholar | rs368454909 |
rs368454909 | |
pharmgkb | rs368454909 |
gwascentral | rs368454909 |
openSNP | rs368454909 |
23andMe | rs368454909 |
SNPshot | rs368454909 |
SNPdbe | rs368454909 |
MSV3d | rs368454909 |
GWAS Ctlg | rs368454909 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368454909(A;A) |
Alt | rs368454909(A;A) |
Reference | Rs368454909(G;G) |
Significance | Pathogenic |
Disease | not provided Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | not provided Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.996129G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078370.3, RCV000180110.1, |