{{Rsnum
|rsid=12926089
|Gene=CLCN7
|Chromosome=16
|position=1452856
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.09183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CLCN7
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 79.6 | 19.5 | 0.9
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 66.0 | 30.6 | 3.4
| ASW | 75.4 | 22.8 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 92.1 | 7.9 | 0.0
| LWK | 68.2 | 28.2 | 3.6
| MEX | 87.5 | 12.5 | 0.0
| MKK | 75.0 | 23.1 | 1.9
| TSI | 78.4 | 21.6 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=12926089
|allele=T
|frequency=
|uid=1103645400871
|type=heterozygous_SNP
|hugo=CLCN7
|ensembl gene=ENSG00000103249
|ensembl transcript=ENST00000382745
|sift=TOLERATED
|disease=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|18755304|OA=1
}} CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

{{GET Evidence
|gene=CLCN7
|aa_change=Val418Met
|aa_change_short=V418M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12926089
|overall_frequency_n=1343
|overall_frequency_d=10640
|overall_frequency=0.126222
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=10
}}

{{ClinVar
|ALT=T
|CAF=0.9082; 0.09183
|CHROM=16
|CLNACC=RCV000055845.1
|CLNALLE=1
|CLNDBN=Osteopetrosis autosomal recessive 4
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1127:C1969106:611490:667
|CLNHGVS=NC_000016.9:g.1502857C>T
|CLNSIG=2
|CLNSRC=GeneReviews
|CLNSRCID=NBK1127
|COMMON=1
|Disease=Osteopetrosis autosomal recessive 4
|FwdALT=T
|FwdREF=C
|GENEINFO=CLCN7:1186
|GENE_ID=1186
|GENE_NAME=CLCN7
|REF=C
|RSPOS=1502857
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x05016800000015051f110100
|WGT=0
|dbSNPBuildID=121
|rsid=12926089
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}