rs766938111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766938111(C;T) |
Make rs766938111(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80210898 |
Gene | SGSH |
is a | snp |
is | mentioned by |
dbSNP | rs766938111 |
dbSNP (classic) | rs766938111 |
ClinGen | rs766938111 |
ebi | rs766938111 |
HLI | rs766938111 |
Exac | rs766938111 |
Gnomad | rs766938111 |
Varsome | rs766938111 |
LitVar | rs766938111 |
Map | rs766938111 |
PheGenI | rs766938111 |
Biobank | rs766938111 |
1000 genomes | rs766938111 |
hgdp | rs766938111 |
ensembl | rs766938111 |
geneview | rs766938111 |
scholar | rs766938111 |
rs766938111 | |
pharmgkb | rs766938111 |
gwascentral | rs766938111 |
openSNP | rs766938111 |
23andMe | rs766938111 |
SNPshot | rs766938111 |
SNPdbe | rs766938111 |
MSV3d | rs766938111 |
GWAS Ctlg | rs766938111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766938111(T;T) |
Alt | rs766938111(T;T) |
Reference | Rs766938111(C;C) |
Significance | Pathogenic |
Disease | Sanfilippo syndrome not provided Mucopolysaccharidosis |
Variation | info |
Gene | SGSH |
CLNDBN | Sanfilippo syndrome not provided Mucopolysaccharidosis, MPS-III-A |
Reversed | 0 |
HGVS | NC_000017.10:g.78184697C>T |
CLNSRC | |
CLNACC | RCV000384558.1, RCV000414288.1, RCV000489539.1, |