rs193302906
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193302906(A;A) |
Make rs193302906(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149487072 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs193302906 |
dbSNP (classic) | rs193302906 |
ClinGen | rs193302906 |
ebi | rs193302906 |
HLI | rs193302906 |
Exac | rs193302906 |
Gnomad | rs193302906 |
Varsome | rs193302906 |
LitVar | rs193302906 |
Map | rs193302906 |
PheGenI | rs193302906 |
Biobank | rs193302906 |
1000 genomes | rs193302906 |
hgdp | rs193302906 |
ensembl | rs193302906 |
geneview | rs193302906 |
scholar | rs193302906 |
rs193302906 | |
pharmgkb | rs193302906 |
gwascentral | rs193302906 |
openSNP | rs193302906 |
23andMe | rs193302906 |
SNPshot | rs193302906 |
SNPdbe | rs193302906 |
MSV3d | rs193302906 |
GWAS Ctlg | rs193302906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193302906(A;A) |
Alt | rs193302906(A;A) |
Reference | Rs193302906(T;T) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148568603A>T |
CLNSRC | |
CLNACC | RCV000204392.1, |