rs104894863
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 1 | Likely miscall in LivingDNA data |
(G;G) | 0 | common in clinvar |
Make rs104894863(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 149482933 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs104894863 |
dbSNP (classic) | rs104894863 |
ClinGen | rs104894863 |
ebi | rs104894863 |
HLI | rs104894863 |
Exac | rs104894863 |
Gnomad | rs104894863 |
Varsome | rs104894863 |
LitVar | rs104894863 |
Map | rs104894863 |
PheGenI | rs104894863 |
Biobank | rs104894863 |
1000 genomes | rs104894863 |
hgdp | rs104894863 |
ensembl | rs104894863 |
geneview | rs104894863 |
scholar | rs104894863 |
rs104894863 | |
pharmgkb | rs104894863 |
gwascentral | rs104894863 |
openSNP | rs104894863 |
23andMe | rs104894863 |
SNPshot | rs104894863 |
SNPdbe | rs104894863 |
MSV3d | rs104894863 |
GWAS Ctlg | rs104894863 |
Max Magnitude | 1 |
ClinVar | |
---|---|
Risk | Rs104894863(C;C) |
Alt | Rs104894863(C;C) |
Reference | Rs104894863(G;G) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148564464C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011248.5, |