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Biotechnology Information ncbi reference snp database
Ncbi Reference Snp Database, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/snp+reference+database/ncbi+snp+database/pm17303802-78-20-18
Average 90 stars, based on 1 article reviews
ncbi reference snp database - by Bioz Stars, 2026-09
90/100 stars

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Related Articles

Mutagenesis:

Article Title: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis
Article Snippet: Currently, the c.10103A>G (p.Asp3368Gly) variant is not reported in databases of human gene mutations [GnomAD, ClinVar, or in the National Center for Biotechnology Information-Single Nucleotide Polymorphism (NCBI SNP) database], and the data about its frequency in humans are not available; thus, we classified it as a novel rare variant.

Article Title: Langerin+ cell targeting
Article Snippet: Wt Langerin that is referred to in this text contains the V278A polymorphism and is present in the human population at 49.9% (rs741326, National Center for Biotechnology Information (NCBI) SNP database).

Article Title: Association between BCL11B gene polymorphisms and age-related hearing loss in the elderly: A case-control study in Qingdao, China
Article Snippet: Two SNPs (rs1152781, rs1152783) of BCL11B were selected based on the following criteria: (1) functional SNPs in the promoter, 5′-untranslated region (5′-UTR), exon, and 3′-untranslated region (3′-UTR) of the BCL11B gene were identified from the National Center for Biotechnology Information SNP database NCBI-SNP ( http://www.ncbi.nlm.nih.gov/snp/ ) and the 1000 Genomes East Asian database ( https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/ ).

Article Title: A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Article Snippet: Currently, the p.Gly543Cys mutation is not reported in databases of human gene mutations [GnomAD, ClinVar, or Human Gene Mutation Database (HGMD)], in the National Center for Biotechnology Information-Single Nucleotide Polymorphism (NCBI SNP) database, or published in the scientific literature, and the data about its frequency in humans are not available; thus, we classified it as a novel rare variant.

Variant Assay:

Article Title: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis
Article Snippet: Currently, the c.10103A>G (p.Asp3368Gly) variant is not reported in databases of human gene mutations [GnomAD, ClinVar, or in the National Center for Biotechnology Information-Single Nucleotide Polymorphism (NCBI SNP) database], and the data about its frequency in humans are not available; thus, we classified it as a novel rare variant.

Article Title: Langerin+ cell targeting
Article Snippet: Wt Langerin that is referred to in this text contains the V278A polymorphism and is present in the human population at 49.9% (rs741326, National Center for Biotechnology Information (NCBI) SNP database).

Article Title: Association between BCL11B gene polymorphisms and age-related hearing loss in the elderly: A case-control study in Qingdao, China
Article Snippet: Two SNPs (rs1152781, rs1152783) of BCL11B were selected based on the following criteria: (1) functional SNPs in the promoter, 5′-untranslated region (5′-UTR), exon, and 3′-untranslated region (3′-UTR) of the BCL11B gene were identified from the National Center for Biotechnology Information SNP database NCBI-SNP ( http://www.ncbi.nlm.nih.gov/snp/ ) and the 1000 Genomes East Asian database ( https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/ ).

Article Title: A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Article Snippet: Currently, the p.Gly543Cys mutation is not reported in databases of human gene mutations [GnomAD, ClinVar, or Human Gene Mutation Database (HGMD)], in the National Center for Biotechnology Information-Single Nucleotide Polymorphism (NCBI SNP) database, or published in the scientific literature, and the data about its frequency in humans are not available; thus, we classified it as a novel rare variant.



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