rs864622772
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a MPS II mutation; note X-linkage |
Make rs864622772(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149483006 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs864622772 |
dbSNP (classic) | rs864622772 |
ClinGen | rs864622772 |
ebi | rs864622772 |
HLI | rs864622772 |
Exac | rs864622772 |
Gnomad | rs864622772 |
Varsome | rs864622772 |
LitVar | rs864622772 |
Map | rs864622772 |
PheGenI | rs864622772 |
Biobank | rs864622772 |
1000 genomes | rs864622772 |
hgdp | rs864622772 |
ensembl | rs864622772 |
geneview | rs864622772 |
scholar | rs864622772 |
rs864622772 | |
pharmgkb | rs864622772 |
gwascentral | rs864622772 |
openSNP | rs864622772 |
23andMe | rs864622772 |
SNPshot | rs864622772 |
SNPdbe | rs864622772 |
MSV3d | rs864622772 |
GWAS Ctlg | rs864622772 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs864622772(A;A) rs864622772(T;T) |
Alt | rs864622772(A;A) rs864622772(T;T) |
Reference | Rs864622772(C;C) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis not provided |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.148564537G>A; NC_000023.10:g.148564537G>T |
CLNSRC | |
CLNACC | RCV000205510.1, RCV000429619.1, |