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Links from Nucleotide

Items: 1 to 20 of 190101

1.

rs781782530 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:32140199 (GRCh38)
    6:32107976 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32140198:G:A
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000285/4 (ALFA)
    A=0.000093/13 (GnomAD)
    A=0.000106/28 (TOPMED)
    A=0.000259/1 (ALSPAC)
    A=0.00027/1 (TWINSUK)
    HGVS:
    2.

    rs781781860 has merged into rs369404825 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>-,TT [Show Flanks]
      Chromosome:
      6:32007447 (GRCh38)
      6:31975224 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32007446:TTTTTTTT:TTTTTTT,NC_000006.12:32007446:TTTTTTTT:TTTTTTTTT
      Gene:
      CYP21A1P (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      -=0.000008/2 (GnomAD_exomes)
      -=0.000018/2 (ExAC)
      -=0.00003/4 (GnomAD)
      HGVS:
      6.

      rs781780458 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:32222337 (GRCh38)
        6:32190114 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32222336:G:A
        Gene:
        NOTCH4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000142/2 (ALFA)
        A=0./0 (TWINSUK)
        A=0.000057/8 (GnomAD)
        A=0.000087/23 (TOPMED)
        A=0.000519/2 (ALSPAC)
        HGVS:
        7.

        rs781779688 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          6:31758234 (GRCh38)
          6:31726011 (GRCh37)
          Canonical SPDI:
          NC_000006.12:31758233:G:A,NC_000006.12:31758233:G:T
          Gene:
          MSH5 (Varview), MSH5-SAPCD1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (GnomAD)
          A=0.00002/5 (GnomAD_exomes)
          A=0.000026/3 (ExAC)
          T=0.00006/1 (TOMMO)
          HGVS:
          NC_000006.12:g.31758234G>A, NC_000006.12:g.31758234G>T, NC_000006.11:g.31726011G>A, NC_000006.11:g.31726011G>T, NG_011611.1:g.23238G>A, NG_011611.1:g.23238G>T, NM_025259.6:c.1135G>A, NM_025259.6:c.1135G>T, NM_025259.5:c.1135G>A, NM_025259.5:c.1135G>T, NM_002441.5:c.1084G>A, NM_002441.5:c.1084G>T, NM_002441.4:c.1084G>A, NM_002441.4:c.1084G>T, NM_172165.4:c.1084G>A, NM_172165.4:c.1084G>T, NM_172165.3:c.1084G>A, NM_172165.3:c.1084G>T, NM_172166.4:c.1084G>A, NM_172166.4:c.1084G>T, NM_172166.3:c.1084G>A, NM_172166.3:c.1084G>T, NT_113891.3:g.3235491G>A, NT_113891.3:g.3235491G>T, NT_113891.2:g.3235597G>A, NT_113891.2:g.3235597G>T, NT_167245.2:g.3006008G>A, NT_167245.2:g.3006008G>T, NT_167245.1:g.3011593G>A, NT_167245.1:g.3011593G>T, NT_167247.2:g.3100123G>A, NT_167247.2:g.3100123G>T, NT_167247.1:g.3105708G>A, NT_167247.1:g.3105708G>T, NT_167248.2:g.3014057G>A, NT_167248.2:g.3014057G>T, NT_167248.1:g.3019653G>A, NT_167248.1:g.3019653G>T, NT_167249.2:g.3057526G>A, NT_167249.2:g.3057526G>T, NT_167249.1:g.3056824G>A, NT_167249.1:g.3056824G>T, NT_167244.2:g.3090846G>A, NT_167244.2:g.3090846G>T, NT_167244.1:g.3040762G>A, NT_167244.1:g.3040762G>T, NR_037846.1:n.1263G>A, NR_037846.1:n.1263G>T, NP_079535.4:p.Asp379Asn, NP_079535.4:p.Asp379Tyr, NP_002432.1:p.Asp362Asn, NP_002432.1:p.Asp362Tyr, NP_751897.1:p.Asp362Asn, NP_751897.1:p.Asp362Tyr, NP_751898.1:p.Asp362Asn, NP_751898.1:p.Asp362Tyr
          8.

          rs781778776 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            6:31275108 (GRCh38)
            6:31242885 (GRCh37)
            Canonical SPDI:
            NC_000006.12:31275107:T:
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000378/7 (ALFA)
            -=0./0 (ALSPAC)
            -=0.00014/37 (TOPMED)
            -=0.000171/24 (GnomAD)
            -=0.00027/1 (TWINSUK)
            -=0.008333/5 (NorthernSweden)
            HGVS:
            9.

            rs781778712 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:32839120 (GRCh38)
              6:32806897 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32839119:T:C
              Gene:
              TAP2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0./0 (ALSPAC)
              C=0.000004/1 (TOPMED)
              C=0.000021/3 (GnomAD)
              C=0.00027/1 (TWINSUK)
              HGVS:
              12.

              rs781776541 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                6:30249986 (GRCh38)
                6:30217763 (GRCh37)
                Canonical SPDI:
                NC_000006.12:30249985:C:
                Gene:
                HCG17 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.034134/472 (ALFA)
                -=0.00006/1 (TOMMO)
                -=0.077451/9023 (GnomAD)
                -=0.106488/476 (Estonian)
                -=0.333333/10 (GENOME_DK)
                HGVS:
                13.

                rs781776004 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  6:31939914 (GRCh38)
                  6:31907691 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:31939913:T:A
                  Gene:
                  C2 (Varview), C2-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (TWINSUK)
                  A=0.000004/1 (TOPMED)
                  A=0.000259/1 (ALSPAC)
                  HGVS:
                  14.

                  rs781774655 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTAA>- [Show Flanks]
                    Chromosome:
                    6:28969031 (GRCh38)
                    6:28936808 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:28969026:TTAATTAA:TTAA
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTAATTAA=0.00243/45 (ALFA)
                    -=0.000457/121 (TOPMED)
                    -=0.002524/354 (GnomAD)
                    -=0.007589/34 (Estonian)
                    HGVS:
                    16.

                    rs781773762 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      6:31005582 (GRCh38)
                      6:30973359 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:31005581:T:C
                      Gene:
                      MUC22 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000142/2 (ALFA)
                      C=0.000086/12 (GnomAD)
                      C=0.000132/35 (TOPMED)
                      HGVS:
                      18.

                      rs781772291 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        6:30672928 (GRCh38)
                        6:30640705 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:30672927:T:G
                        Gene:
                        DHX16 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000006/1 (GnomAD_exomes)
                        G=0.00003/1 (ExAC)
                        HGVS:
                        19.
                        20.

                        rs781770046 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:29173884 (GRCh38)
                          6:29141661 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:29173883:G:A
                          Gene:
                          OR2J2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000012/3 (GnomAD_exomes)
                          A=0.000017/2 (ExAC)
                          HGVS:

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