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rs12926089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12926089(C;T)
Make rs12926089(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1452856
GeneCLCN7
is asnp
is mentioned by
dbSNPrs12926089
ebirs12926089
HLIrs12926089
Exacrs12926089
Varsomers12926089
Maprs12926089
PheGenIrs12926089
hapmaprs12926089
1000 genomesrs12926089
hgdprs12926089
ensemblrs12926089
gopubmedrs12926089
geneviewrs12926089
scholarrs12926089
googlers12926089
pharmgkbrs12926089
gwascentralrs12926089
openSNPrs12926089
23andMers12926089
23andMe allrs12926089
SNP Nexus

SNPshotrs12926089
SNPdbers12926089
MSV3drs12926089
GWAS Ctlgrs12926089
GMAF0.09183
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene CLCN7
allele T
frequency
sift TOLERATED
HuRef 1103645400871
Disease Association Defects in CLCN7 are a cause of autosomal dominant osteopetrosis type II (OPTA2) (MIM:166600); also called autosomal dominant Albers-Schonberg disease. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis, and the skull base.



[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 18755304OA-icon.png] CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.


GET Evidence
CLCN7-V418M
aa_change Val418Met
aa_change_short V418M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.126222
summary



ClinVar
Risk rs12926089(T;T)
Alt rs12926089(T;T)
Reference rs12926089(C;C)
Significance Non-pathogenic
Disease Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 0
HGVS NC_000016.9:g.1502857C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055845.1,