rs121965029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
(G;G) | 0 | common in clinvar |
Make rs121965029(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 987916 |
Gene | IDUA, SLC26A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121965029 |
dbSNP (classic) | rs121965029 |
ClinGen | rs121965029 |
ebi | rs121965029 |
HLI | rs121965029 |
Exac | rs121965029 |
Gnomad | rs121965029 |
Varsome | rs121965029 |
LitVar | rs121965029 |
Map | rs121965029 |
PheGenI | rs121965029 |
Biobank | rs121965029 |
1000 genomes | rs121965029 |
hgdp | rs121965029 |
ensembl | rs121965029 |
geneview | rs121965029 |
scholar | rs121965029 |
rs121965029 | |
pharmgkb | rs121965029 |
gwascentral | rs121965029 |
openSNP | rs121965029 |
23andMe | rs121965029 |
SNPshot | rs121965029 |
SNPdbe | rs121965029 |
MSV3d | rs121965029 |
GWAS Ctlg | rs121965029 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121965029(A;A) |
Alt | rs121965029(A;A) |
Reference | Rs121965029(G;G) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis Hurler syndrome Mucopolysaccharidosis type I |
Variation | info |
Gene | SLC26A1 IDUA |
CLNDBN | Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type I |
Reversed | 0 |
HGVS | NC_000004.11:g.981704G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012697.16, RCV000169784.3, RCV000208598.1, |