rs113993945
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113993945(A;A) |
Make rs113993945(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149498132 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs113993945 |
dbSNP (classic) | rs113993945 |
ClinGen | rs113993945 |
ebi | rs113993945 |
HLI | rs113993945 |
Exac | rs113993945 |
Gnomad | rs113993945 |
Varsome | rs113993945 |
LitVar | rs113993945 |
Map | rs113993945 |
PheGenI | rs113993945 |
Biobank | rs113993945 |
1000 genomes | rs113993945 |
hgdp | rs113993945 |
ensembl | rs113993945 |
geneview | rs113993945 |
scholar | rs113993945 |
rs113993945 | |
pharmgkb | rs113993945 |
gwascentral | rs113993945 |
openSNP | rs113993945 |
23andMe | rs113993945 |
SNPshot | rs113993945 |
SNPdbe | rs113993945 |
MSV3d | rs113993945 |
GWAS Ctlg | rs113993945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993945(A;A) |
Alt | rs113993945(A;A) |
Reference | Rs113993945(C;C) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148579663G>T |
CLNSRC | |
CLNACC | RCV000205838.1, |