rs199422227
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 rs199422227(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149483072 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs199422227 |
dbSNP (classic) | rs199422227 |
ClinGen | rs199422227 |
ebi | rs199422227 |
HLI | rs199422227 |
Exac | rs199422227 |
Gnomad | rs199422227 |
Varsome | rs199422227 |
LitVar | rs199422227 |
Map | rs199422227 |
PheGenI | rs199422227 |
Biobank | rs199422227 |
1000 genomes | rs199422227 |
hgdp | rs199422227 |
ensembl | rs199422227 |
geneview | rs199422227 |
scholar | rs199422227 |
rs199422227 | |
pharmgkb | rs199422227 |
gwascentral | rs199422227 |
openSNP | rs199422227 |
23andMe | rs199422227 |
SNPshot | rs199422227 |
SNPdbe | rs199422227 |
MSV3d | rs199422227 |
GWAS Ctlg | rs199422227 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs199422227(A;A) rs199422227(T;T) |
Alt | rs199422227(A;A) rs199422227(T;T) |
Reference | Rs199422227(C;C) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148564603G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011232.3, |