rs869025307
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of a MPS II mutation; note X-linkage |
(T;T) | 0 | common in clinvar |
Make rs869025307(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149482936 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs869025307 |
dbSNP (classic) | rs869025307 |
ClinGen | rs869025307 |
ebi | rs869025307 |
HLI | rs869025307 |
Exac | rs869025307 |
Gnomad | rs869025307 |
Varsome | rs869025307 |
LitVar | rs869025307 |
Map | rs869025307 |
PheGenI | rs869025307 |
Biobank | rs869025307 |
1000 genomes | rs869025307 |
hgdp | rs869025307 |
ensembl | rs869025307 |
geneview | rs869025307 |
scholar | rs869025307 |
rs869025307 | |
pharmgkb | rs869025307 |
gwascentral | rs869025307 |
openSNP | rs869025307 |
23andMe | rs869025307 |
SNPshot | rs869025307 |
SNPdbe | rs869025307 |
MSV3d | rs869025307 |
GWAS Ctlg | rs869025307 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs869025307(-;-) |
Alt | rs869025307(-;-) |
Reference | Rs869025307(T;T) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148564467delA |
CLNSRC | |
CLNACC | RCV000207439.1, |