rs1085307096
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAAGTCTACCCC;GAAGTCTACCCC) | 0 | common in clinvar |
Chromosome | 3 |
Position | 133947261 |
Gene | SLCO2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307096 |
dbSNP (classic) | rs1085307096 |
ClinGen | rs1085307096 |
ebi | rs1085307096 |
HLI | rs1085307096 |
Exac | rs1085307096 |
Gnomad | rs1085307096 |
Varsome | rs1085307096 |
LitVar | rs1085307096 |
Map | rs1085307096 |
PheGenI | rs1085307096 |
Biobank | rs1085307096 |
1000 genomes | rs1085307096 |
hgdp | rs1085307096 |
ensembl | rs1085307096 |
geneview | rs1085307096 |
scholar | rs1085307096 |
rs1085307096 | |
pharmgkb | rs1085307096 |
gwascentral | rs1085307096 |
openSNP | rs1085307096 |
23andMe | rs1085307096 |
SNPshot | rs1085307096 |
SNPdbe | rs1085307096 |
MSV3d | rs1085307096 |
GWAS Ctlg | rs1085307096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307096(-;-) |
Alt | rs1085307096(-;-) |
Reference | Rs1085307096(GAAGTCTACCCC;GAAGTCTACCCC) |
Significance | Probable-Pathogenic |
Disease | Primary hypertrophic osteoarthropathy |
Variation | info |
Gene | SLCO2A1 |
CLNDBN | Primary hypertrophic osteoarthropathy, autosomal recessive 2 |
Reversed | 1 |
HGVS | NC_000003.11:g.133666105_133666116delGGGGTAGACTTC |
CLNSRC | |
CLNACC | RCV000490458.1, |