rs1065757
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1065757(A;A) |
Make rs1065757(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 78885654 |
Gene | ARSB |
is a | snp |
is | mentioned by |
dbSNP | rs1065757 |
dbSNP (classic) | rs1065757 |
ClinGen | rs1065757 |
ebi | rs1065757 |
HLI | rs1065757 |
Exac | rs1065757 |
Gnomad | rs1065757 |
Varsome | rs1065757 |
LitVar | rs1065757 |
Map | rs1065757 |
PheGenI | rs1065757 |
Biobank | rs1065757 |
1000 genomes | rs1065757 |
hgdp | rs1065757 |
ensembl | rs1065757 |
geneview | rs1065757 |
scholar | rs1065757 |
rs1065757 | |
pharmgkb | rs1065757 |
gwascentral | rs1065757 |
openSNP | rs1065757 |
23andMe | rs1065757 |
SNPshot | rs1065757 |
SNPdbe | rs1065757 |
MSV3d | rs1065757 |
GWAS Ctlg | rs1065757 |
GMAF | 0.3398 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1065757(A;A) rs1065757(C;C) rs1065757(T;T) |
Alt | rs1065757(A;A) rs1065757(C;C) rs1065757(T;T) |
Reference | Rs1065757(G;G) |
Significance | Non-pathogenic |
Disease | not specified Mucopolysaccharidosis type VI |
Variation | info |
Gene | ARSB |
CLNDBN | not specified Mucopolysaccharidosis type VI |
Reversed | 1 |
HGVS | NC_000005.9:g.78181477C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000077997.5, RCV000352809.1, |