rs398123250
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123250(C;C) |
Make rs398123250(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149498228 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs398123250 |
dbSNP (classic) | rs398123250 |
ClinGen | rs398123250 |
ebi | rs398123250 |
HLI | rs398123250 |
Exac | rs398123250 |
Gnomad | rs398123250 |
Varsome | rs398123250 |
LitVar | rs398123250 |
Map | rs398123250 |
PheGenI | rs398123250 |
Biobank | rs398123250 |
1000 genomes | rs398123250 |
hgdp | rs398123250 |
ensembl | rs398123250 |
geneview | rs398123250 |
scholar | rs398123250 |
rs398123250 | |
pharmgkb | rs398123250 |
gwascentral | rs398123250 |
openSNP | rs398123250 |
23andMe | rs398123250 |
SNPshot | rs398123250 |
SNPdbe | rs398123250 |
MSV3d | rs398123250 |
GWAS Ctlg | rs398123250 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123250(C;C) |
Alt | rs398123250(C;C) |
Reference | Rs398123250(T;T) |
Significance | Pathogenic |
Disease | not provided Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | not provided Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148579759A>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078366.3, RCV000178730.1, |