rs3045
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs3045(C;C) |
Make rs3045(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 14711166 |
Gene | ANKH, LOC100130744, OTULIN |
is a | snp |
is | mentioned by |
dbSNP | rs3045 |
dbSNP (classic) | rs3045 |
ClinGen | rs3045 |
ebi | rs3045 |
HLI | rs3045 |
Exac | rs3045 |
Gnomad | rs3045 |
Varsome | rs3045 |
LitVar | rs3045 |
Map | rs3045 |
PheGenI | rs3045 |
Biobank | rs3045 |
1000 genomes | rs3045 |
hgdp | rs3045 |
ensembl | rs3045 |
geneview | rs3045 |
scholar | rs3045 |
rs3045 | |
pharmgkb | rs3045 |
gwascentral | rs3045 |
openSNP | rs3045 |
23andMe | rs3045 |
SNPshot | rs3045 |
SNPdbe | rs3045 |
MSV3d | rs3045 |
GWAS Ctlg | rs3045 |
GMAF | 0.05601 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 24467728] The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study
ClinVar | |
---|---|
Risk | rs3045(C;C) |
Alt | rs3045(C;C) |
Reference | Rs3045(T;T) |
Significance | Non-pathogenic |
Disease | Craniometaphyseal dysplasia Chondrocalcinosis |
Variation | info |
Gene | ANKH LOC100130744 |
CLNDBN | Craniometaphyseal dysplasia Chondrocalcinosis |
Reversed | 0 |
HGVS | NC_000005.9:g.14711275T>C |
CLNSRC | |
CLNACC | RCV000318528.1, RCV000375465.1, |