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Links from Nucleotide

Items: 1 to 20 of 118

1.

rs1483523167 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:116705976 (GRCh38)
    1:117248598 (GRCh37)
    Canonical SPDI:
    NC_000001.11:116705975:C:A
    Gene:
    LINC02868 (Varview), LOC105378926 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency
    MAF:
    A=0.000007/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1478365372 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:116706552 (GRCh38)
      1:117249174 (GRCh37)
      Canonical SPDI:
      NC_000001.11:116706551:A:G
      Gene:
      LINC02868 (Varview), LOC105378926 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      HGVS:
      3.

      rs1474773096 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:116694805 (GRCh38)
        1:117237427 (GRCh37)
        Canonical SPDI:
        NC_000001.11:116694804:C:A
        Gene:
        LINC02868 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000007/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1468469751 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:116694189 (GRCh38)
          1:117236811 (GRCh37)
          Canonical SPDI:
          NC_000001.11:116694188:T:C
          Gene:
          LINC02868 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/3 (ALFA)
          C=0.000014/2 (GnomAD)
          C=0.000026/7 (TOPMED)
          C=0.000034/5 (GnomAD_exomes)
          HGVS:
          5.

          rs1467144468 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:116706517 (GRCh38)
            1:117249139 (GRCh37)
            Canonical SPDI:
            NC_000001.11:116706516:T:G
            Gene:
            LINC02868 (Varview), LOC105378926 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000007/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1459671706 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:116694147 (GRCh38)
              1:117236769 (GRCh37)
              Canonical SPDI:
              NC_000001.11:116694146:T:C
              Gene:
              LINC02868 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              T=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1445425822 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:116694780 (GRCh38)
                1:117237402 (GRCh37)
                Canonical SPDI:
                NC_000001.11:116694779:C:G
                Gene:
                LINC02868 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1440249480 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  1:116694134 (GRCh38)
                  1:117236756 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:116694133:C:A,NC_000001.11:116694133:C:T
                  Gene:
                  LINC02868 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.00002/3 (GnomAD_exomes)
                  A=0.000546/1 (Korea1K)
                  HGVS:
                  9.

                  rs1433141098 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:116705996 (GRCh38)
                    1:117248618 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:116705995:C:T
                    Gene:
                    LINC02868 (Varview), LOC105378926 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000013/2 (GnomAD_exomes)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1429635816 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:116706566 (GRCh38)
                      1:117249188 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:116706565:G:A
                      Gene:
                      LINC02868 (Varview), LOC105378926 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000021/3 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1429133085 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:116706481 (GRCh38)
                        1:117249103 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:116706480:A:G
                        Gene:
                        LINC02868 (Varview), LOC105378926 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1426441671 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:116694799 (GRCh38)
                          1:117237421 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:116694798:A:G
                          Gene:
                          LINC02868 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD_exomes)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1424140826 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:116694804 (GRCh38)
                            1:117237426 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:116694803:A:G
                            Gene:
                            LINC02868 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            HGVS:
                            14.

                            rs1422153409 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:116706550 (GRCh38)
                              1:117249172 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:116706549:A:G
                              Gene:
                              LINC02868 (Varview), LOC105378926 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD_exomes)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1421539982 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                1:116694825 (GRCh38)
                                1:117237447 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:116694824:CCC:CC
                                Gene:
                                LINC02868 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1420882835 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  1:116705984 (GRCh38)
                                  1:117248606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:116705983:G:A,NC_000001.11:116705983:G:T
                                  Gene:
                                  LINC02868 (Varview), LOC105378926 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000013/2 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1394685848 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:116705995 (GRCh38)
                                    1:117248617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:116705994:C:A
                                    Gene:
                                    LINC02868 (Varview), LOC105378926 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000047/1 (ALFA)
                                    A=0.000007/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1393033553 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:116706485 (GRCh38)
                                      1:117249107 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:116706484:C:G
                                      Gene:
                                      LINC02868 (Varview), LOC105378926 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      HGVS:
                                      19.

                                      rs1391375291 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:116705953 (GRCh38)
                                        1:117248575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:116705952:T:C
                                        Gene:
                                        LINC02868 (Varview), LOC105378926 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
                                        HGVS:
                                        20.

                                        rs1390744611 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:116706483 (GRCh38)
                                          1:117249105 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:116706482:C:G
                                          Gene:
                                          LINC02868 (Varview), LOC105378926 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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