rs864622771
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864622771(C;C) |
Make rs864622771(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149487089 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs864622771 |
dbSNP (classic) | rs864622771 |
ClinGen | rs864622771 |
ebi | rs864622771 |
HLI | rs864622771 |
Exac | rs864622771 |
Gnomad | rs864622771 |
Varsome | rs864622771 |
LitVar | rs864622771 |
Map | rs864622771 |
PheGenI | rs864622771 |
Biobank | rs864622771 |
1000 genomes | rs864622771 |
hgdp | rs864622771 |
ensembl | rs864622771 |
geneview | rs864622771 |
scholar | rs864622771 |
rs864622771 | |
pharmgkb | rs864622771 |
gwascentral | rs864622771 |
openSNP | rs864622771 |
23andMe | rs864622771 |
SNPshot | rs864622771 |
SNPdbe | rs864622771 |
MSV3d | rs864622771 |
GWAS Ctlg | rs864622771 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622771(C;C) |
Alt | rs864622771(C;C) |
Reference | Rs864622771(T;T) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148568620A>G |
CLNSRC | |
CLNACC | RCV000206113.1, |