rs118203944
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118203944(A;C) |
Make rs118203944(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 78839391 |
Gene | ARSB |
is a | snp |
is | mentioned by |
dbSNP | rs118203944 |
dbSNP (classic) | rs118203944 |
ClinGen | rs118203944 |
ebi | rs118203944 |
HLI | rs118203944 |
Exac | rs118203944 |
Gnomad | rs118203944 |
Varsome | rs118203944 |
LitVar | rs118203944 |
Map | rs118203944 |
PheGenI | rs118203944 |
Biobank | rs118203944 |
1000 genomes | rs118203944 |
hgdp | rs118203944 |
ensembl | rs118203944 |
geneview | rs118203944 |
scholar | rs118203944 |
rs118203944 | |
pharmgkb | rs118203944 |
gwascentral | rs118203944 |
openSNP | rs118203944 |
23andMe | rs118203944 |
SNPshot | rs118203944 |
SNPdbe | rs118203944 |
MSV3d | rs118203944 |
GWAS Ctlg | rs118203944 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203944(C;C) |
Alt | rs118203944(C;C) |
Reference | Rs118203944(A;A) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis type VI not provided |
Variation | info |
Gene | ARSB |
CLNDBN | Mucopolysaccharidosis type VI not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.78135214T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000934.5, RCV000424623.1, |