rs387906976
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a multiple sulfatase deficiency mutation |
Make rs387906976(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 4417180 |
Gene | SUMF1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906976 |
dbSNP (classic) | rs387906976 |
ClinGen | rs387906976 |
ebi | rs387906976 |
HLI | rs387906976 |
Exac | rs387906976 |
Gnomad | rs387906976 |
Varsome | rs387906976 |
LitVar | rs387906976 |
Map | rs387906976 |
PheGenI | rs387906976 |
Biobank | rs387906976 |
1000 genomes | rs387906976 |
hgdp | rs387906976 |
ensembl | rs387906976 |
geneview | rs387906976 |
scholar | rs387906976 |
rs387906976 | |
pharmgkb | rs387906976 |
gwascentral | rs387906976 |
openSNP | rs387906976 |
23andMe | rs387906976 |
SNPshot | rs387906976 |
SNPdbe | rs387906976 |
MSV3d | rs387906976 |
GWAS Ctlg | rs387906976 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906976(T;T) |
Alt | rs387906976(T;T) |
Reference | Rs387906976(G;G) |
Significance | Pathogenic |
Disease | Multiple sulfatase deficiency |
Variation | info |
Gene | SUMF1 |
CLNDBN | Multiple sulfatase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.4458864C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023667.3, |