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Links from Nucleotide

Items: 1 to 20 of 146

1.

rs1491267629 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    16:9449754 (GRCh38)
    16:9543612 (GRCh37)
    Canonical SPDI:
    NC_000016.10:9449754::G
    Gene:
    LOC101927026 (Varview), LINC01195 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000099/3 (GnomAD)
    HGVS:
    2.

    rs1491172186 has merged into rs34874780 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
      Chromosome:
      16:9449762 (GRCh38)
      16:9543619 (GRCh37)
      Canonical SPDI:
      NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
      Gene:
      LOC101927026 (Varview), LINC01195 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      T=0.437773/802 (Korea1K)
      T=0.442398/1705 (ALSPAC)
      T=0.442826/1642 (TWINSUK)
      T=0.445487/2231 (1000Genomes)
      T=0.45/18 (GENOME_DK)
      T=0.461419/122133 (TOPMED)
      T=0.481667/289 (NorthernSweden)
      T=0.489065/8197 (TOMMO)
      HGVS:
      3.

      rs1490634957 has merged into rs34874780 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
        Chromosome:
        16:9449762 (GRCh38)
        16:9543619 (GRCh37)
        Canonical SPDI:
        NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
        Gene:
        LOC101927026 (Varview), LINC01195 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        T=0.437773/802 (Korea1K)
        T=0.442398/1705 (ALSPAC)
        T=0.442826/1642 (TWINSUK)
        T=0.445487/2231 (1000Genomes)
        T=0.45/18 (GENOME_DK)
        T=0.461419/122133 (TOPMED)
        T=0.481667/289 (NorthernSweden)
        T=0.489065/8197 (TOMMO)
        HGVS:
        4.

        rs1489032239 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:9446038 (GRCh38)
          16:9539895 (GRCh37)
          Canonical SPDI:
          NC_000016.10:9446037:G:A
          Gene:
          LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1485256865 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:9448028 (GRCh38)
            16:9541885 (GRCh37)
            Canonical SPDI:
            NC_000016.10:9448027:A:G
            Gene:
            LOC101927026 (Varview), LINC01195 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1480874822 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              16:9449794 (GRCh38)
              16:9543651 (GRCh37)
              Canonical SPDI:
              NC_000016.10:9449793:G:C
              Gene:
              LOC101927026 (Varview), LINC01195 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1470538747 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                16:9446217 (GRCh38)
                16:9540074 (GRCh37)
                Canonical SPDI:
                NC_000016.10:9446216:C:G
                Gene:
                LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1469372573 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  16:9455456 (GRCh38)
                  16:9549313 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:9455455:C:G
                  Gene:
                  LOC101927026 (Varview), LINC01195 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1457017199 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    16:9446058 (GRCh38)
                    16:9539915 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:9446057:A:G,NC_000016.10:9446057:A:T
                    Gene:
                    LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000021/3 (GnomAD)
                    T=0.000035/1 (TOMMO)
                    G=0.000042/11 (TOPMED)
                    HGVS:
                    10.

                    rs1440767175 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:9446229 (GRCh38)
                      16:9540086 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:9446228:C:G
                      Gene:
                      LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1437782487 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:9449815 (GRCh38)
                        16:9543672 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:9449814:A:G
                        Gene:
                        LOC101927026 (Varview), LINC01195 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1434537115 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          16:9447998 (GRCh38)
                          16:9541855 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:9447997:G:C
                          Gene:
                          LOC101927026 (Varview), LINC01195 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1427726414 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:9449745 (GRCh38)
                            16:9543602 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:9449744:C:T
                            Gene:
                            LOC101927026 (Varview), LINC01195 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1419222635 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:9455433 (GRCh38)
                              16:9549290 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:9455432:T:C
                              Gene:
                              LOC101927026 (Varview), LINC01195 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1418720752 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:9455480 (GRCh38)
                                16:9549337 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:9455479:A:G
                                Gene:
                                LOC101927026 (Varview), LINC01195 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1417855936 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  16:9448007 (GRCh38)
                                  16:9541864 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:9448006:C:G
                                  Gene:
                                  LOC101927026 (Varview), LINC01195 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000035/1 (TOMMO)
                                  G=0.000342/1 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1413323439 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    16:9447937 (GRCh38)
                                    16:9541794 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:9447936:A:C,NC_000016.10:9447936:A:G
                                    Gene:
                                    LOC101927026 (Varview), LINC01195 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1411135095 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:9446189 (GRCh38)
                                      16:9540046 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:9446188:A:G
                                      Gene:
                                      LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1410607468 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        16:9447984 (GRCh38)
                                        16:9541841 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:9447982:ACA:A
                                        Gene:
                                        LOC101927026 (Varview), LINC01195 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1405088054 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:9448011 (GRCh38)
                                          16:9541868 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:9448010:C:T
                                          Gene:
                                          LOC101927026 (Varview), LINC01195 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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