rs374621913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374621913(A;A) |
Make rs374621913(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80213852 |
Gene | SGSH |
is a | snp |
is | mentioned by |
dbSNP | rs374621913 |
dbSNP (classic) | rs374621913 |
ClinGen | rs374621913 |
ebi | rs374621913 |
HLI | rs374621913 |
Exac | rs374621913 |
Gnomad | rs374621913 |
Varsome | rs374621913 |
LitVar | rs374621913 |
Map | rs374621913 |
PheGenI | rs374621913 |
Biobank | rs374621913 |
1000 genomes | rs374621913 |
hgdp | rs374621913 |
ensembl | rs374621913 |
geneview | rs374621913 |
scholar | rs374621913 |
rs374621913 | |
pharmgkb | rs374621913 |
gwascentral | rs374621913 |
openSNP | rs374621913 |
23andMe | rs374621913 |
SNPshot | rs374621913 |
SNPdbe | rs374621913 |
MSV3d | rs374621913 |
GWAS Ctlg | rs374621913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374621913(A;A) rs374621913(C;C) |
Alt | rs374621913(A;A) rs374621913(C;C) |
Reference | Rs374621913(G;G) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | SGSH |
CLNDBN | Mucopolysaccharidosis, MPS-III-A |
Reversed | 0 |
HGVS | NC_000017.10:g.78187651G>A |
CLNSRC | |
CLNACC | RCV000409562.1, |