rs752914124
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAGGTCCTTG;GGAGGTCCTTG) | 0 | common in clinvar |
Make rs752914124(-;-) |
Make rs752914124(-;GGAGGTCCTTG) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 80210679 |
Gene | SGSH |
is a | snp |
is | mentioned by |
dbSNP | rs752914124 |
dbSNP (classic) | rs752914124 |
ClinGen | rs752914124 |
ebi | rs752914124 |
HLI | rs752914124 |
Exac | rs752914124 |
Gnomad | rs752914124 |
Varsome | rs752914124 |
LitVar | rs752914124 |
Map | rs752914124 |
PheGenI | rs752914124 |
Biobank | rs752914124 |
1000 genomes | rs752914124 |
hgdp | rs752914124 |
ensembl | rs752914124 |
geneview | rs752914124 |
scholar | rs752914124 |
rs752914124 | |
pharmgkb | rs752914124 |
gwascentral | rs752914124 |
openSNP | rs752914124 |
23andMe | rs752914124 |
SNPshot | rs752914124 |
SNPdbe | rs752914124 |
MSV3d | rs752914124 |
GWAS Ctlg | rs752914124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752914124(-;-) |
Alt | rs752914124(-;-) |
Reference | Rs752914124(GGAGGTCCTTG;GGAGGTCCTTG) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis not provided |
Variation | info |
Gene | SGSH |
CLNDBN | Mucopolysaccharidosis, MPS-III-A not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78184478_78184488delGGAGGTCCTTG |
CLNSRC | |
CLNACC | RCV000295921.1, RCV000484018.1, |