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Links from Nucleotide

Items: 1 to 20 of 31

1.

rs1466341752 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    5:140726230 (GRCh38)
    5:140105815 (GRCh37)
    Canonical SPDI:
    NC_000005.10:140726229:C:G,NC_000005.10:140726229:C:T
    Gene:
    VTRNA1-3 (Varview), LOC105378198 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000034/9 (TOPMED)
    T=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1437954088 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      5:140726161 (GRCh38)
      5:140105746 (GRCh37)
      Canonical SPDI:
      NC_000005.10:140726160:CT:
      Gene:
      VTRNA1-3 (Varview), LOC105378198 (Varview)
      Functional Consequence:
      upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1432829374 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:140726223 (GRCh38)
        5:140105808 (GRCh37)
        Canonical SPDI:
        NC_000005.10:140726222:C:T
        Gene:
        VTRNA1-3 (Varview), LOC105378198 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,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)
        T=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1432396028 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:140726188 (GRCh38)
          5:140105773 (GRCh37)
          Canonical SPDI:
          NC_000005.10:140726187:G:A
          Gene:
          VTRNA1-3 (Varview), LOC105378198 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.035829/425 (ALFA)
          A=0.000029/4 (GnomAD)
          A=0.013689/40 (KOREAN)
          HGVS:
          5.

          rs1366797373 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:140726186 (GRCh38)
            5:140105771 (GRCh37)
            Canonical SPDI:
            NC_000005.10:140726185:G:A
            Gene:
            VTRNA1-3 (Varview), LOC105378198 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.03633/431 (ALFA)
            A=0.01437/42 (KOREAN)
            HGVS:
            6.

            rs1364969464 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:140726202 (GRCh38)
              5:140105787 (GRCh37)
              Canonical SPDI:
              NC_000005.10:140726201:C:T
              Gene:
              VTRNA1-3 (Varview), LOC105378198 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1359635966 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:140726210 (GRCh38)
                5:140105795 (GRCh37)
                Canonical SPDI:
                NC_000005.10:140726209:G:A
                Gene:
                VTRNA1-3 (Varview), LOC105378198 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1347696178 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  5:140726234 (GRCh38)
                  5:140105820 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:140726234:T:TT
                  Gene:
                  VTRNA1-3 (Varview), LOC105378198 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1296497090 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    5:140726192 (GRCh38)
                    5:140105777 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:140726191:C:G,NC_000005.10:140726191:C:T
                    Gene:
                    VTRNA1-3 (Varview), LOC105378198 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.00457/51 (ALFA)
                    G=0.01198/35 (KOREAN)
                    HGVS:
                    10.

                    rs1281345842 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:140726196 (GRCh38)
                      5:140105781 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:140726195:A:G
                      Gene:
                      VTRNA1-3 (Varview), LOC105378198 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                      HGVS:
                      11.

                      rs1281177725 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:140726207 (GRCh38)
                        5:140105792 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:140726206:C:T
                        Gene:
                        VTRNA1-3 (Varview), LOC105378198 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000072/19 (TOPMED)
                        HGVS:
                        12.

                        rs1275167961 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          5:140726220 (GRCh38)
                          5:140105805 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:140726219:G:C,NC_000005.10:140726219:G:T
                          Gene:
                          VTRNA1-3 (Varview), LOC105378198 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.001092/2 (Korea1K)
                          T=0.001711/5 (KOREAN)
                          HGVS:
                          13.

                          rs1265620116 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            5:140726225 (GRCh38)
                            5:140105810 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:140726224:G:T
                            Gene:
                            VTRNA1-3 (Varview), LOC105378198 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1256077399 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              5:140726236 (GRCh38)
                              5:140105821 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:140726235:C:G
                              Gene:
                              VTRNA1-3 (Varview), LOC105378198 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1220124579 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                5:140726203 (GRCh38)
                                5:140105788 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:140726202:C:G,NC_000005.10:140726202:C:T
                                Gene:
                                VTRNA1-3 (Varview), LOC105378198 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1219168568 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:140726174 (GRCh38)
                                  5:140105759 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:140726173:A:G
                                  Gene:
                                  VTRNA1-3 (Varview), LOC105378198 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1210060490 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:140726226 (GRCh38)
                                    5:140105811 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:140726225:C:T
                                    Gene:
                                    VTRNA1-3 (Varview), LOC105378198 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1199604240 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:140726222 (GRCh38)
                                      5:140105807 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:140726221:C:T
                                      Gene:
                                      VTRNA1-3 (Varview), LOC105378198 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1020187264 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        5:140726159 (GRCh38)
                                        5:140105744 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:140726158:G:T
                                        Gene:
                                        VTRNA1-3 (Varview), LOC105378198 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs979481003 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          5:140726189 (GRCh38)
                                          5:140105774 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:140726188:T:A
                                          Gene:
                                          VTRNA1-3 (Varview), LOC105378198 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:

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