rs121965025
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965025(C;T) |
Make rs121965025(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1004292 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs121965025 |
dbSNP (classic) | rs121965025 |
ClinGen | rs121965025 |
ebi | rs121965025 |
HLI | rs121965025 |
Exac | rs121965025 |
Gnomad | rs121965025 |
Varsome | rs121965025 |
LitVar | rs121965025 |
Map | rs121965025 |
PheGenI | rs121965025 |
Biobank | rs121965025 |
1000 genomes | rs121965025 |
hgdp | rs121965025 |
ensembl | rs121965025 |
geneview | rs121965025 |
scholar | rs121965025 |
rs121965025 | |
pharmgkb | rs121965025 |
gwascentral | rs121965025 |
openSNP | rs121965025 |
23andMe | rs121965025 |
SNPshot | rs121965025 |
SNPdbe | rs121965025 |
MSV3d | rs121965025 |
GWAS Ctlg | rs121965025 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965025(G;G) rs121965025(T;T) |
Alt | rs121965025(G;G) rs121965025(T;T) |
Reference | Rs121965025(C;C) |
Significance | Pathogenic |
Disease | Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.998080C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012692.21, |