rs727503967
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
(G;G) | 0 | common in clinvar |
Make rs727503967(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 1003434 |
Gene | IDUA |
is a | snp |
is | mentioned by |
dbSNP | rs727503967 |
dbSNP (classic) | rs727503967 |
ClinGen | rs727503967 |
ebi | rs727503967 |
HLI | rs727503967 |
Exac | rs727503967 |
Gnomad | rs727503967 |
Varsome | rs727503967 |
LitVar | rs727503967 |
Map | rs727503967 |
PheGenI | rs727503967 |
Biobank | rs727503967 |
1000 genomes | rs727503967 |
hgdp | rs727503967 |
ensembl | rs727503967 |
geneview | rs727503967 |
scholar | rs727503967 |
rs727503967 | |
pharmgkb | rs727503967 |
gwascentral | rs727503967 |
openSNP | rs727503967 |
23andMe | rs727503967 |
SNPshot | rs727503967 |
SNPdbe | rs727503967 |
MSV3d | rs727503967 |
GWAS Ctlg | rs727503967 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs727503967(-;-) |
Alt | rs727503967(-;-) |
Reference | Rs727503967(G;G) |
Significance | Pathogenic |
Disease | not provided Hurler syndrome |
Variation | info |
Gene | IDUA |
CLNDBN | not provided Hurler syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.997222delG |
CLNSRC | HGMD |
CLNACC | RCV000153377.2, RCV000173986.1, |