rs137852853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | Carrier of a multiple sulfatase deficiency mutation |
(G;G) | 0 | common in clinvar |
Make rs137852853(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 4362227 |
Gene | SUMF1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852853 |
dbSNP (classic) | rs137852853 |
ClinGen | rs137852853 |
ebi | rs137852853 |
HLI | rs137852853 |
Exac | rs137852853 |
Gnomad | rs137852853 |
Varsome | rs137852853 |
LitVar | rs137852853 |
Map | rs137852853 |
PheGenI | rs137852853 |
Biobank | rs137852853 |
1000 genomes | rs137852853 |
hgdp | rs137852853 |
ensembl | rs137852853 |
geneview | rs137852853 |
scholar | rs137852853 |
rs137852853 | |
pharmgkb | rs137852853 |
gwascentral | rs137852853 |
openSNP | rs137852853 |
23andMe | rs137852853 |
SNPshot | rs137852853 |
SNPdbe | rs137852853 |
MSV3d | rs137852853 |
GWAS Ctlg | rs137852853 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs137852853(C;C) |
Alt | rs137852853(C;C) |
Reference | Rs137852853(G;G) |
Significance | Pathogenic |
Disease | Multiple sulfatase deficiency |
Variation | info |
Gene | SUMF1 |
CLNDBN | Multiple sulfatase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.4403911C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002795.3, |