rs104894853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894853(C;T) |
Make rs104894853(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149490322 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs104894853 |
dbSNP (classic) | rs104894853 |
ClinGen | rs104894853 |
ebi | rs104894853 |
HLI | rs104894853 |
Exac | rs104894853 |
Gnomad | rs104894853 |
Varsome | rs104894853 |
LitVar | rs104894853 |
Map | rs104894853 |
PheGenI | rs104894853 |
Biobank | rs104894853 |
1000 genomes | rs104894853 |
hgdp | rs104894853 |
ensembl | rs104894853 |
geneview | rs104894853 |
scholar | rs104894853 |
rs104894853 | |
pharmgkb | rs104894853 |
gwascentral | rs104894853 |
openSNP | rs104894853 |
23andMe | rs104894853 |
SNPshot | rs104894853 |
SNPdbe | rs104894853 |
MSV3d | rs104894853 |
GWAS Ctlg | rs104894853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894853(T;T) |
Alt | rs104894853(T;T) |
Reference | Rs104894853(C;C) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis not provided |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.148571853G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011233.7, RCV000078369.3, |