rs483352905
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCC;TCC) | 0 | common in clinvar |
Make rs483352905(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 149503379 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs483352905 |
dbSNP (classic) | rs483352905 |
ClinGen | rs483352905 |
ebi | rs483352905 |
HLI | rs483352905 |
Exac | rs483352905 |
Gnomad | rs483352905 |
Varsome | rs483352905 |
LitVar | rs483352905 |
Map | rs483352905 |
PheGenI | rs483352905 |
Biobank | rs483352905 |
1000 genomes | rs483352905 |
hgdp | rs483352905 |
ensembl | rs483352905 |
geneview | rs483352905 |
scholar | rs483352905 |
rs483352905 | |
pharmgkb | rs483352905 |
gwascentral | rs483352905 |
openSNP | rs483352905 |
23andMe | rs483352905 |
SNPshot | rs483352905 |
SNPdbe | rs483352905 |
MSV3d | rs483352905 |
GWAS Ctlg | rs483352905 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352905(-;-) |
Alt | rs483352905(-;-) |
Reference | Rs483352905(TCC;TCC) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148584909_148584911delGGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011247.3, |