rs1085307107
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a multiple sulfatase deficiency mutation |
(G;G) | 0 | common in clinvar |
Make rs1085307107(A;A) |
Chromosome | 3 |
Position | 4452983 |
Gene | SUMF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307107 |
dbSNP (classic) | rs1085307107 |
ClinGen | rs1085307107 |
ebi | rs1085307107 |
HLI | rs1085307107 |
Exac | rs1085307107 |
Gnomad | rs1085307107 |
Varsome | rs1085307107 |
LitVar | rs1085307107 |
Map | rs1085307107 |
PheGenI | rs1085307107 |
Biobank | rs1085307107 |
1000 genomes | rs1085307107 |
hgdp | rs1085307107 |
ensembl | rs1085307107 |
geneview | rs1085307107 |
scholar | rs1085307107 |
rs1085307107 | |
pharmgkb | rs1085307107 |
gwascentral | rs1085307107 |
openSNP | rs1085307107 |
23andMe | rs1085307107 |
SNPshot | rs1085307107 |
SNPdbe | rs1085307107 |
MSV3d | rs1085307107 |
GWAS Ctlg | rs1085307107 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs1085307107(A;A) |
Alt | rs1085307107(A;A) |
Reference | Rs1085307107(G;G) |
Significance | Pathogenic |
Disease | Multiple sulfatase deficiency |
Variation | info |
Gene | SUMF1 |
CLNDBN | Multiple sulfatase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.4494667C>T |
CLNSRC | |
CLNACC | RCV000490557.1, |