rs797044703
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TCAA) | 3 | Carrier of a MPS II mutation; note X-linkage |
Make rs797044703(TCAA;TCAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 149503412 |
Gene | IDS |
is a | snp |
is | mentioned by |
dbSNP | rs797044703 |
dbSNP (classic) | rs797044703 |
ClinGen | rs797044703 |
ebi | rs797044703 |
HLI | rs797044703 |
Exac | rs797044703 |
Gnomad | rs797044703 |
Varsome | rs797044703 |
LitVar | rs797044703 |
Map | rs797044703 |
PheGenI | rs797044703 |
Biobank | rs797044703 |
1000 genomes | rs797044703 |
hgdp | rs797044703 |
ensembl | rs797044703 |
geneview | rs797044703 |
scholar | rs797044703 |
rs797044703 | |
pharmgkb | rs797044703 |
gwascentral | rs797044703 |
openSNP | rs797044703 |
23andMe | rs797044703 |
SNPshot | rs797044703 |
SNPdbe | rs797044703 |
MSV3d | rs797044703 |
GWAS Ctlg | rs797044703 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797044703(TCAA;TCAA) |
Alt | rs797044703(TCAA;TCAA) |
Reference | Rs797044703(-;-) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | IDS |
CLNDBN | Mucopolysaccharidosis, MPS-II |
Reversed | 1 |
HGVS | NC_000023.10:g.148584942_148584943insTTGA |
CLNSRC | |
CLNACC | RCV000177015.1, |