rs113993953
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs113993953(A;T) |
Make rs113993953(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149490436 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs113993953 |
dbSNP (classic) | rs113993953 |
ClinGen | rs113993953 |
ebi | rs113993953 |
HLI | rs113993953 |
Exac | rs113993953 |
Gnomad | rs113993953 |
Varsome | rs113993953 |
LitVar | rs113993953 |
Map | rs113993953 |
PheGenI | rs113993953 |
Biobank | rs113993953 |
1000 genomes | rs113993953 |
hgdp | rs113993953 |
ensembl | rs113993953 |
geneview | rs113993953 |
scholar | rs113993953 |
rs113993953 | |
pharmgkb | rs113993953 |
gwascentral | rs113993953 |
openSNP | rs113993953 |
23andMe | rs113993953 |
SNPshot | rs113993953 |
SNPdbe | rs113993953 |
MSV3d | rs113993953 |
GWAS Ctlg | rs113993953 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993953(G;G) rs113993953(T;T) |
Alt | rs113993953(G;G) rs113993953(T;T) |
Reference | Rs113993953(A;A) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148571967T>A |
CLNSRC | |
CLNACC | RCV000203709.1, |