rs765249238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765249238(C;T) |
Make rs765249238(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 133948892 |
Gene | SLCO2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs765249238 |
dbSNP (classic) | rs765249238 |
ClinGen | rs765249238 |
ebi | rs765249238 |
HLI | rs765249238 |
Exac | rs765249238 |
Gnomad | rs765249238 |
Varsome | rs765249238 |
LitVar | rs765249238 |
Map | rs765249238 |
PheGenI | rs765249238 |
Biobank | rs765249238 |
1000 genomes | rs765249238 |
hgdp | rs765249238 |
ensembl | rs765249238 |
geneview | rs765249238 |
scholar | rs765249238 |
rs765249238 | |
pharmgkb | rs765249238 |
gwascentral | rs765249238 |
openSNP | rs765249238 |
23andMe | rs765249238 |
SNPshot | rs765249238 |
SNPdbe | rs765249238 |
MSV3d | rs765249238 |
GWAS Ctlg | rs765249238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765249238(T;T) |
Alt | rs765249238(T;T) |
Reference | Rs765249238(C;C) |
Significance | Pathogenic |
Disease | Primary hypertrophic osteoarthropathy |
Variation | info |
Gene | SLCO2A1 |
CLNDBN | Primary hypertrophic osteoarthropathy, autosomal recessive 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.133667736C>T |
CLNSRC | |
CLNACC | RCV000490351.1, |