rs794726887
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTGCTC) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
(CTGCTC;CTGCTC) | 0 | common in clinvar |
Make rs794726887(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 88856767 |
Gene | GALNS, LOC107983950, TRAPPC2L |
is a | snp |
is | mentioned by |
dbSNP | rs794726887 |
dbSNP (classic) | rs794726887 |
ClinGen | rs794726887 |
ebi | rs794726887 |
HLI | rs794726887 |
Exac | rs794726887 |
Gnomad | rs794726887 |
Varsome | rs794726887 |
LitVar | rs794726887 |
Map | rs794726887 |
PheGenI | rs794726887 |
Biobank | rs794726887 |
1000 genomes | rs794726887 |
hgdp | rs794726887 |
ensembl | rs794726887 |
geneview | rs794726887 |
scholar | rs794726887 |
rs794726887 | |
pharmgkb | rs794726887 |
gwascentral | rs794726887 |
openSNP | rs794726887 |
23andMe | rs794726887 |
SNPshot | rs794726887 |
SNPdbe | rs794726887 |
MSV3d | rs794726887 |
GWAS Ctlg | rs794726887 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs794726887(-;-) |
Alt | rs794726887(-;-) |
Reference | Rs794726887(CTGCTC;CTGCTC) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | GALNS TRAPPC2L |
CLNDBN | Mucopolysaccharidosis, MPS-IV-A |
Reversed | 1 |
HGVS | NC_000016.9:g.88923175_88923180delGAGCAG |
CLNSRC | |
CLNACC | RCV000173142.1, |