rs869025302
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs869025302(C;T) |
Make rs869025302(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149490317 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs869025302 |
dbSNP (classic) | rs869025302 |
ClinGen | rs869025302 |
ebi | rs869025302 |
HLI | rs869025302 |
Exac | rs869025302 |
Gnomad | rs869025302 |
Varsome | rs869025302 |
LitVar | rs869025302 |
Map | rs869025302 |
PheGenI | rs869025302 |
Biobank | rs869025302 |
1000 genomes | rs869025302 |
hgdp | rs869025302 |
ensembl | rs869025302 |
geneview | rs869025302 |
scholar | rs869025302 |
rs869025302 | |
pharmgkb | rs869025302 |
gwascentral | rs869025302 |
openSNP | rs869025302 |
23andMe | rs869025302 |
SNPshot | rs869025302 |
SNPdbe | rs869025302 |
MSV3d | rs869025302 |
GWAS Ctlg | rs869025302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025302(T;T) |
Alt | rs869025302(T;T) |
Reference | Rs869025302(C;C) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148571848G>A |
CLNSRC | |
CLNACC | RCV000207368.1, |