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Links from Nucleotide

Items: 15

6.
11.

rs749388493 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    17:59841269 (GRCh38)
    17:57918630 (GRCh37)
    Canonical SPDI:
    NC_000017.11:59841268:C:G,NC_000017.11:59841268:C:T
    Gene:
    VMP1 (Varview), MIR21 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000008/1 (ExAC)
    T=0.000035/1 (TOMMO)
    HGVS:
    NC_000017.11:g.59841269C>G, NC_000017.11:g.59841269C>T, NC_000017.10:g.57918630C>G, NC_000017.10:g.57918630C>T, NG_051107.1:g.138805C>G, NG_051107.1:g.138805C>T, NM_030938.5:c.*1358C>G, NM_030938.5:c.*1358C>T, NM_030938.4:c.*1358C>G, NM_030938.4:c.*1358C>T, NM_001329394.2:c.*1358C>G, NM_001329394.2:c.*1358C>T, NM_001329394.1:c.*1358C>G, NM_001329394.1:c.*1358C>T, NM_001329395.2:c.*1358C>G, NM_001329395.2:c.*1358C>T, NM_001329395.1:c.*1358C>G, NM_001329395.1:c.*1358C>T, NM_001329398.2:c.*1358C>G, NM_001329398.2:c.*1358C>T, NM_001329398.1:c.*1358C>G, NM_001329398.1:c.*1358C>T, NM_001329399.2:c.*1358C>G, NM_001329399.2:c.*1358C>T, NM_001329399.1:c.*1358C>G, NM_001329399.1:c.*1358C>T, NM_001329396.2:c.*1358C>G, NM_001329396.2:c.*1358C>T, NM_001329396.1:c.*1358C>G, NM_001329396.1:c.*1358C>T, NM_001329402.2:c.*1358C>G, NM_001329402.2:c.*1358C>T, NM_001329402.1:c.*1358C>G, NM_001329402.1:c.*1358C>T, NM_001329397.2:c.*1358C>G, NM_001329397.2:c.*1358C>T, NM_001329397.1:c.*1358C>G, NM_001329397.1:c.*1358C>T, NM_001329400.2:c.*1358C>G, NM_001329400.2:c.*1358C>T, NM_001329400.1:c.*1358C>G, NM_001329400.1:c.*1358C>T, NM_001329401.2:c.*1358C>G, NM_001329401.2:c.*1358C>T, NM_001329401.1:c.*1358C>G, NM_001329401.1:c.*1358C>T, NR_029493.1:n.4C>G, NR_029493.1:n.4C>T
    12.

    rs747325963 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      17:59841322 (GRCh38)
      17:57918683 (GRCh37)
      Canonical SPDI:
      NC_000017.11:59841321:G:A,NC_000017.11:59841321:G:C
      Gene:
      VMP1 (Varview), MIR21 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      A=0.000008/1 (ExAC)
      HGVS:
      NC_000017.11:g.59841322G>A, NC_000017.11:g.59841322G>C, NC_000017.10:g.57918683G>A, NC_000017.10:g.57918683G>C, NG_051107.1:g.138858G>A, NG_051107.1:g.138858G>C, NM_030938.5:c.*1411G>A, NM_030938.5:c.*1411G>C, NM_030938.4:c.*1411G>A, NM_030938.4:c.*1411G>C, NM_001329394.2:c.*1411G>A, NM_001329394.2:c.*1411G>C, NM_001329394.1:c.*1411G>A, NM_001329394.1:c.*1411G>C, NM_001329395.2:c.*1411G>A, NM_001329395.2:c.*1411G>C, NM_001329395.1:c.*1411G>A, NM_001329395.1:c.*1411G>C, NM_001329398.2:c.*1411G>A, NM_001329398.2:c.*1411G>C, NM_001329398.1:c.*1411G>A, NM_001329398.1:c.*1411G>C, NM_001329399.2:c.*1411G>A, NM_001329399.2:c.*1411G>C, NM_001329399.1:c.*1411G>A, NM_001329399.1:c.*1411G>C, NM_001329396.2:c.*1411G>A, NM_001329396.2:c.*1411G>C, NM_001329396.1:c.*1411G>A, NM_001329396.1:c.*1411G>C, NM_001329402.2:c.*1411G>A, NM_001329402.2:c.*1411G>C, NM_001329402.1:c.*1411G>A, NM_001329402.1:c.*1411G>C, NM_001329397.2:c.*1411G>A, NM_001329397.2:c.*1411G>C, NM_001329397.1:c.*1411G>A, NM_001329397.1:c.*1411G>C, NM_001329400.2:c.*1411G>A, NM_001329400.2:c.*1411G>C, NM_001329400.1:c.*1411G>A, NM_001329400.1:c.*1411G>C, NM_001329401.2:c.*1411G>A, NM_001329401.2:c.*1411G>C, NM_001329401.1:c.*1411G>A, NM_001329401.1:c.*1411G>C, NR_029493.1:n.57G>A, NR_029493.1:n.57G>C
      13.

      rs746383582 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        17:59841297 (GRCh38)
        17:57918658 (GRCh37)
        Canonical SPDI:
        NC_000017.11:59841296:G:A,NC_000017.11:59841296:G:C
        Gene:
        VMP1 (Varview), MIR21 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        C=0.000008/1 (ExAC)
        HGVS:
        NC_000017.11:g.59841297G>A, NC_000017.11:g.59841297G>C, NC_000017.10:g.57918658G>A, NC_000017.10:g.57918658G>C, NG_051107.1:g.138833G>A, NG_051107.1:g.138833G>C, NM_030938.5:c.*1386G>A, NM_030938.5:c.*1386G>C, NM_030938.4:c.*1386G>A, NM_030938.4:c.*1386G>C, NM_001329394.2:c.*1386G>A, NM_001329394.2:c.*1386G>C, NM_001329394.1:c.*1386G>A, NM_001329394.1:c.*1386G>C, NM_001329395.2:c.*1386G>A, NM_001329395.2:c.*1386G>C, NM_001329395.1:c.*1386G>A, NM_001329395.1:c.*1386G>C, NM_001329398.2:c.*1386G>A, NM_001329398.2:c.*1386G>C, NM_001329398.1:c.*1386G>A, NM_001329398.1:c.*1386G>C, NM_001329399.2:c.*1386G>A, NM_001329399.2:c.*1386G>C, NM_001329399.1:c.*1386G>A, NM_001329399.1:c.*1386G>C, NM_001329396.2:c.*1386G>A, NM_001329396.2:c.*1386G>C, NM_001329396.1:c.*1386G>A, NM_001329396.1:c.*1386G>C, NM_001329402.2:c.*1386G>A, NM_001329402.2:c.*1386G>C, NM_001329402.1:c.*1386G>A, NM_001329402.1:c.*1386G>C, NM_001329397.2:c.*1386G>A, NM_001329397.2:c.*1386G>C, NM_001329397.1:c.*1386G>A, NM_001329397.1:c.*1386G>C, NM_001329400.2:c.*1386G>A, NM_001329400.2:c.*1386G>C, NM_001329400.1:c.*1386G>A, NM_001329400.1:c.*1386G>C, NM_001329401.2:c.*1386G>A, NM_001329401.2:c.*1386G>C, NM_001329401.1:c.*1386G>A, NM_001329401.1:c.*1386G>C, NR_029493.1:n.32G>A, NR_029493.1:n.32G>C
        14.

        rs540457553 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          17:59841317 (GRCh38)
          17:57918678 (GRCh37)
          Canonical SPDI:
          NC_000017.11:59841316:C:G,NC_000017.11:59841316:C:T
          Gene:
          VMP1 (Varview), MIR21 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000008/1 (ExAC)
          T=0.000156/1 (1000Genomes)
          HGVS:
          NC_000017.11:g.59841317C>G, NC_000017.11:g.59841317C>T, NC_000017.10:g.57918678C>G, NC_000017.10:g.57918678C>T, NG_051107.1:g.138853C>G, NG_051107.1:g.138853C>T, NM_030938.5:c.*1406C>G, NM_030938.5:c.*1406C>T, NM_030938.4:c.*1406C>G, NM_030938.4:c.*1406C>T, NM_001329394.2:c.*1406C>G, NM_001329394.2:c.*1406C>T, NM_001329394.1:c.*1406C>G, NM_001329394.1:c.*1406C>T, NM_001329395.2:c.*1406C>G, NM_001329395.2:c.*1406C>T, NM_001329395.1:c.*1406C>G, NM_001329395.1:c.*1406C>T, NM_001329398.2:c.*1406C>G, NM_001329398.2:c.*1406C>T, NM_001329398.1:c.*1406C>G, NM_001329398.1:c.*1406C>T, NM_001329399.2:c.*1406C>G, NM_001329399.2:c.*1406C>T, NM_001329399.1:c.*1406C>G, NM_001329399.1:c.*1406C>T, NM_001329396.2:c.*1406C>G, NM_001329396.2:c.*1406C>T, NM_001329396.1:c.*1406C>G, NM_001329396.1:c.*1406C>T, NM_001329402.2:c.*1406C>G, NM_001329402.2:c.*1406C>T, NM_001329402.1:c.*1406C>G, NM_001329402.1:c.*1406C>T, NM_001329397.2:c.*1406C>G, NM_001329397.2:c.*1406C>T, NM_001329397.1:c.*1406C>G, NM_001329397.1:c.*1406C>T, NM_001329400.2:c.*1406C>G, NM_001329400.2:c.*1406C>T, NM_001329400.1:c.*1406C>G, NM_001329400.1:c.*1406C>T, NM_001329401.2:c.*1406C>G, NM_001329401.2:c.*1406C>T, NM_001329401.1:c.*1406C>G, NM_001329401.1:c.*1406C>T, NR_029493.1:n.52C>G, NR_029493.1:n.52C>T
          15.

          rs375409923 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:59841272 (GRCh38)
            17:57918633 (GRCh37)
            Canonical SPDI:
            NC_000017.11:59841271:G:A
            Gene:
            VMP1 (Varview), MIR21 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000008/1 (ExAC)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000014/2 (GnomAD)
            A=0.000019/5 (TOPMED)
            A=0.000097/1 (GoESP)
            HGVS:

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