rs797044502
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044502(-;-) |
Make rs797044502(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149486957 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs797044502 |
dbSNP (classic) | rs797044502 |
ClinGen | rs797044502 |
ebi | rs797044502 |
HLI | rs797044502 |
Exac | rs797044502 |
Gnomad | rs797044502 |
Varsome | rs797044502 |
LitVar | rs797044502 |
Map | rs797044502 |
PheGenI | rs797044502 |
Biobank | rs797044502 |
1000 genomes | rs797044502 |
hgdp | rs797044502 |
ensembl | rs797044502 |
geneview | rs797044502 |
scholar | rs797044502 |
rs797044502 | |
pharmgkb | rs797044502 |
gwascentral | rs797044502 |
openSNP | rs797044502 |
23andMe | rs797044502 |
SNPshot | rs797044502 |
SNPdbe | rs797044502 |
MSV3d | rs797044502 |
GWAS Ctlg | rs797044502 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044502(-;-) |
Alt | rs797044502(-;-) |
Reference | Rs797044502(C;C) |
Significance | Pathogenic |
Disease | not provided Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | not provided Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148568488delG |
CLNSRC | HGMD |
CLNACC | RCV000153374.2, RCV000180106.1, |