rs778700037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
Make rs778700037(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 80210933 |
Gene | SGSH |
is a | snp |
is | mentioned by |
dbSNP | rs778700037 |
dbSNP (classic) | rs778700037 |
ClinGen | rs778700037 |
ebi | rs778700037 |
HLI | rs778700037 |
Exac | rs778700037 |
Gnomad | rs778700037 |
Varsome | rs778700037 |
LitVar | rs778700037 |
Map | rs778700037 |
PheGenI | rs778700037 |
Biobank | rs778700037 |
1000 genomes | rs778700037 |
hgdp | rs778700037 |
ensembl | rs778700037 |
geneview | rs778700037 |
scholar | rs778700037 |
rs778700037 | |
pharmgkb | rs778700037 |
gwascentral | rs778700037 |
openSNP | rs778700037 |
23andMe | rs778700037 |
SNPshot | rs778700037 |
SNPdbe | rs778700037 |
MSV3d | rs778700037 |
GWAS Ctlg | rs778700037 |
Max Magnitude | 3 |
aka c.1027dupC (p.Leu343Profs)
ClinVar | |
---|---|
Risk | rs778700037(G;G) |
Alt | rs778700037(G;G) |
Reference | Rs778700037(-;-) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis not provided |
Variation | info |
Gene | SGSH |
CLNDBN | Mucopolysaccharidosis, MPS-III-A not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78184733dupG |
CLNSRC | |
CLNACC | RCV000180105.1, RCV000478433.1, |