rs12926089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs12926089(C;T) |
Make rs12926089(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 1452856 |
Gene | CLCN7 |
is a | snp |
is | mentioned by |
dbSNP | rs12926089 |
dbSNP (classic) | rs12926089 |
ClinGen | rs12926089 |
ebi | rs12926089 |
HLI | rs12926089 |
Exac | rs12926089 |
Gnomad | rs12926089 |
Varsome | rs12926089 |
LitVar | rs12926089 |
Map | rs12926089 |
PheGenI | rs12926089 |
Biobank | rs12926089 |
1000 genomes | rs12926089 |
hgdp | rs12926089 |
ensembl | rs12926089 |
geneview | rs12926089 |
scholar | rs12926089 |
rs12926089 | |
pharmgkb | rs12926089 |
gwascentral | rs12926089 |
openSNP | rs12926089 |
23andMe | rs12926089 |
SNPshot | rs12926089 |
SNPdbe | rs12926089 |
MSV3d | rs12926089 |
GWAS Ctlg | rs12926089 |
GMAF | 0.09183 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 16120485] Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.
[PMID 16234969] Polymorphisms of the CLCN7 gene are associated with BMD in women.
[PMID 18755304] CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.
ClinVar | |
---|---|
Risk | rs12926089(T;T) |
Alt | rs12926089(T;T) |
Reference | Rs12926089(C;C) |
Significance | Probable-non-pathogenic |
Disease | Osteopetrosis autosomal recessive 4 not specified Osteopetrosis |
Variation | info |
Gene | CLCN7 |
CLNDBN | Osteopetrosis autosomal recessive 4 not specified Osteopetrosis |
Reversed | 0 |
HGVS | NC_000016.9:g.1502857C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000055845.1, RCV000251178.2, RCV000338192.1, |