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1.

rs6265 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    11:27658369 (GRCh38)
    11:27679916 (GRCh37)
    Canonical SPDI:
    NC_000011.10:27658368:C:A,NC_000011.10:27658368:C:G,NC_000011.10:27658368:C:T
    Gene:
    BDNF (Varview), BDNF-AS (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Clinical significance:
    benign,likely-risk-allele,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.1889684/74124 (ALFA)
    T=0.115016/72 (Chileans)
    T=0.125/27 (Qatari)
    T=0.1442476/11352 (PAGE_STUDY)
    T=0.1443662/164 (Daghestan)
    T=0.1509949/22523 (GnomAD_genomes)
    T=0.1510522/39982 (TOPMED)
    T=0.1526786/684 (Estonian)
    T=0.1677632/51 (FINRISK)
    T=0.1798132/693 (ALSPAC)
    T=0.1880841/322 (HapMap)
    T=0.1898237/266036 (GnomAD_exomes)
    T=0.1928263/715 (TWINSUK)
    T=0.1937454/23511 (ExAC)
    T=0.1955028/1252 (1000Genomes_30X)
    T=0.201278/1008 (1000Genomes)
    T=0.2022094/421 (HGDP_Stanford)
    T=0.205/123 (NorthernSweden)
    T=0.2064128/206 (GoNL)
    T=0.225/9 (GENOME_DK)
    T=0.2265918/121 (MGP)
    T=0.3617021/34 (PRJEB36033)
    T=0.410077/31758 (TOMMO)
    C=0.4166667/75 (SGDP_PRJ)
    T=0.4470556/3234 (Korea4K)
    T=0.4481229/1313 (KOREAN)
    T=0.4656114/853 (Korea1K)
    C=0.4901961/300 (Vietnamese)
    C=0.5/6 (Siberian)
    HGVS:
    NC_000011.10:g.27658369C>A, NC_000011.10:g.27658369C>G, NC_000011.10:g.27658369C>T, NC_000011.9:g.27679916C>A, NC_000011.9:g.27679916C>G, NC_000011.9:g.27679916C>T, NG_011794.2:g.68661G>T, NG_011794.2:g.68661G>C, NG_011794.2:g.68661G>A, NG_011794.1:g.68690G>T, NG_011794.1:g.68690G>C, NG_011794.1:g.68690G>A, NM_170735.6:c.196G>T, NM_170735.6:c.196G>C, NM_170735.6:c.196G>A, NM_170735.5:c.196G>T, NM_170735.5:c.196G>C, NM_170735.5:c.196G>A, NM_170731.5:c.220G>T, NM_170731.5:c.220G>C, NM_170731.5:c.220G>A, NM_170731.4:c.220G>T, NM_170731.4:c.220G>C, NM_170731.4:c.220G>A, NM_001709.5:c.196G>T, NM_001709.5:c.196G>C, NM_001709.5:c.196G>A, NM_001709.4:c.196G>T, NM_001709.4:c.196G>C, NM_001709.4:c.196G>A, NM_170732.4:c.196G>T, NM_170732.4:c.196G>C, NM_170732.4:c.196G>A, NM_170733.4:c.196G>T, NM_170733.4:c.196G>C, NM_170733.4:c.196G>A, NM_170733.3:c.196G>T, NM_170733.3:c.196G>C, NM_170733.3:c.196G>A, NM_170734.4:c.241G>T, NM_170734.4:c.241G>C, NM_170734.4:c.241G>A, NM_170734.3:c.241G>T, NM_170734.3:c.241G>C, NM_170734.3:c.241G>A, NM_001143816.2:c.196G>T, NM_001143816.2:c.196G>C, NM_001143816.2:c.196G>A, NM_001143816.1:c.196G>T, NM_001143816.1:c.196G>C, NM_001143816.1:c.196G>A, NM_001143811.2:c.196G>T, NM_001143811.2:c.196G>C, NM_001143811.2:c.196G>A, NM_001143811.1:c.196G>T, NM_001143811.1:c.196G>C, NM_001143811.1:c.196G>A, NM_001143814.2:c.196G>T, NM_001143814.2:c.196G>C, NM_001143814.2:c.196G>A, NM_001143814.1:c.196G>T, NM_001143814.1:c.196G>C, NM_001143814.1:c.196G>A, NM_001143810.2:c.442G>T, NM_001143810.2:c.442G>C, NM_001143810.2:c.442G>A, NM_001143810.1:c.442G>T, NM_001143810.1:c.442G>C, NM_001143810.1:c.442G>A, NM_001143813.2:c.196G>T, NM_001143813.2:c.196G>C, NM_001143813.2:c.196G>A, NM_001143813.1:c.196G>T, NM_001143813.1:c.196G>C, NM_001143813.1:c.196G>A, NM_001143812.2:c.196G>T, NM_001143812.2:c.196G>C, NM_001143812.2:c.196G>A, NM_001143812.1:c.196G>T, NM_001143812.1:c.196G>C, NM_001143812.1:c.196G>A, NM_001143809.2:c.283G>T, NM_001143809.2:c.283G>C, NM_001143809.2:c.283G>A, NM_001143809.1:c.283G>T, NM_001143809.1:c.283G>C, NM_001143809.1:c.283G>A, NM_001143808.2:c.196G>T, NM_001143808.2:c.196G>C, NM_001143808.2:c.196G>A, NM_001143808.1:c.196G>T, NM_001143808.1:c.196G>C, NM_001143808.1:c.196G>A, NM_001143807.2:c.196G>T, NM_001143807.2:c.196G>C, NM_001143807.2:c.196G>A, NM_001143807.1:c.196G>T, NM_001143807.1:c.196G>C, NM_001143807.1:c.196G>A, NM_001143806.1:c.196G>T, NM_001143806.1:c.196G>C, NM_001143806.1:c.196G>A, NM_001143805.1:c.196G>T, NM_001143805.1:c.196G>C, NM_001143805.1:c.196G>A, NR_002832.2:n.503C>A, NR_002832.2:n.503C>G, NR_002832.2:n.503C>T, NR_033312.1:n.434C>A, NR_033312.1:n.434C>G, NR_033312.1:n.434C>T, NR_033314.1:n.503C>A, NR_033314.1:n.503C>G, NR_033314.1:n.503C>T, NR_033315.1:n.434C>A, NR_033315.1:n.434C>G, NR_033315.1:n.434C>T, NR_033313.1:n.434C>A, NR_033313.1:n.434C>G, NR_033313.1:n.434C>T, NM_001143815.1:c.196G>T, NM_001143815.1:c.196G>C, NM_001143815.1:c.196G>A, NP_733931.1:p.Val66Leu, NP_733931.1:p.Val66Leu, NP_733931.1:p.Val66Met, NP_733927.1:p.Val74Leu, NP_733927.1:p.Val74Leu, NP_733927.1:p.Val74Met, NP_001700.2:p.Val66Leu, NP_001700.2:p.Val66Leu, NP_001700.2:p.Val66Met, NP_733928.1:p.Val66Leu, NP_733928.1:p.Val66Leu, NP_733928.1:p.Val66Met, NP_733929.1:p.Val66Leu, NP_733929.1:p.Val66Leu, NP_733929.1:p.Val66Met, NP_733930.1:p.Val81Leu, NP_733930.1:p.Val81Leu, NP_733930.1:p.Val81Met, NP_001137288.1:p.Val66Leu, NP_001137288.1:p.Val66Leu, NP_001137288.1:p.Val66Met, NP_001137283.1:p.Val66Leu, NP_001137283.1:p.Val66Leu, NP_001137283.1:p.Val66Met, NP_001137286.1:p.Val66Leu, NP_001137286.1:p.Val66Leu, NP_001137286.1:p.Val66Met, NP_001137282.1:p.Val148Leu, NP_001137282.1:p.Val148Leu, NP_001137282.1:p.Val148Met, NP_001137285.1:p.Val66Leu, NP_001137285.1:p.Val66Leu, NP_001137285.1:p.Val66Met, NP_001137284.1:p.Val66Leu, NP_001137284.1:p.Val66Leu, NP_001137284.1:p.Val66Met, NP_001137281.1:p.Val95Leu, NP_001137281.1:p.Val95Leu, NP_001137281.1:p.Val95Met, NP_001137280.1:p.Val66Leu, NP_001137280.1:p.Val66Leu, NP_001137280.1:p.Val66Met, NP_001137279.1:p.Val66Leu, NP_001137279.1:p.Val66Leu, NP_001137279.1:p.Val66Met, NP_001137278.1:p.Val66Leu, NP_001137278.1:p.Val66Leu, NP_001137278.1:p.Val66Met, NP_001137277.1:p.Val66Leu, NP_001137277.1:p.Val66Leu, NP_001137277.1:p.Val66Met

    PubMed

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