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Links from Nucleotide

Items: 1 to 20 of 3547

1.

rs1491564498 has merged into rs57176480 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
    Chromosome:
    1:26040925 (GRCh38)
    1:26367416 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCCCC
    Gene:
    SLC30A2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCCCCC=0.0002/1 (ALFA)
    C=0.1863/933 (1000Genomes)
    HGVS:
    2.

    rs1491341443 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ACC,GCC [Show Flanks]
      Chromosome:
      1:26040916 (GRCh38)
      1:26367408 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26040916:C:CACC,NC_000001.11:26040916:C:CGCC
      Gene:
      SLC30A2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CGCC=0./0 (ALFA)
      CGC=0.000059/8 (GnomAD)
      HGVS:
      3.

      rs1491278393 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A,G [Show Flanks]
        Chromosome:
        1:26040919 (GRCh38)
        1:26367411 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26040919::A,NC_000001.11:26040919::G
        Gene:
        SLC30A2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1491009596 has merged into rs35565258 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
          Chromosome:
          1:26048323 (GRCh38)
          1:26374814 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LOC105376910 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.16693/836 (1000Genomes)
          HGVS:
          NC_000001.11:g.26048323_26048326del, NC_000001.11:g.26048324_26048326del, NC_000001.11:g.26048325_26048326del, NC_000001.11:g.26048326del, NC_000001.11:g.26048326dup, NC_000001.11:g.26048325_26048326dup, NC_000001.11:g.26048324_26048326dup, NC_000001.11:g.26048323_26048326dup, NC_000001.10:g.26374814_26374817del, NC_000001.10:g.26374815_26374817del, NC_000001.10:g.26374816_26374817del, NC_000001.10:g.26374817del, NC_000001.10:g.26374817dup, NC_000001.10:g.26374816_26374817dup, NC_000001.10:g.26374815_26374817dup, NC_000001.10:g.26374814_26374817dup, NG_042808.1:g.2828_2831del, NG_042808.1:g.2829_2831del, NG_042808.1:g.2830_2831del, NG_042808.1:g.2831del, NG_042808.1:g.2831dup, NG_042808.1:g.2830_2831dup, NG_042808.1:g.2829_2831dup, NG_042808.1:g.2828_2831dup, XR_001737948.2:n.66_69del, XR_001737948.2:n.67_69del, XR_001737948.2:n.68_69del, XR_001737948.2:n.69del, XR_001737948.2:n.69dup, XR_001737948.2:n.68_69dup, XR_001737948.2:n.67_69dup, XR_001737948.2:n.66_69dup, XR_001737948.1:n.66_69del, XR_001737948.1:n.67_69del, XR_001737948.1:n.68_69del, XR_001737948.1:n.69del, XR_001737948.1:n.69dup, XR_001737948.1:n.68_69dup, XR_001737948.1:n.67_69dup, XR_001737948.1:n.66_69dup
          5.

          rs1490962410 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            1:26038571 (GRCh38)
            1:26365062 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26038570:C:A
            Gene:
            SLC30A2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490554952 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:26046250 (GRCh38)
              1:26372741 (GRCh37)
              Canonical SPDI:
              NC_000001.11:26046249:G:A
              Gene:
              SLC30A2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490497704 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                1:26039814 (GRCh38)
                1:26366305 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26039813:C:A,NC_000001.11:26039813:C:T
                Gene:
                SLC30A2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490479579 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:26037682 (GRCh38)
                  1:26364173 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26037681:C:T
                  Gene:
                  SLC30A2 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490442546 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    1:26047155 (GRCh38)
                    1:26373646 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:26047154:T:C,NC_000001.11:26047154:T:G
                    Gene:
                    SLC30A2 (Varview), LOC105376910 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    G=0.008734/16 (Korea1K)
                    HGVS:
                    10.

                    rs1490123286 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:26042359 (GRCh38)
                      1:26368850 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26042358:C:T
                      Gene:
                      SLC30A2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490119601 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:26038193 (GRCh38)
                        1:26364684 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26038192:A:G
                        Gene:
                        SLC30A2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489959781 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          1:26040930 (GRCh38)
                          1:26367421 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26040929:T:A,NC_000001.11:26040929:T:C
                          Gene:
                          SLC30A2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489956518 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:26037652 (GRCh38)
                            1:26364143 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:26037651:C:T
                            Gene:
                            SLC30A2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489444594 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:26044856 (GRCh38)
                              1:26371347 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26044855:G:T
                              Gene:
                              SLC30A2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489326673 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:26050667 (GRCh38)
                                1:26377158 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26050666:T:C
                                Gene:
                                LOC105376910 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488920449 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:26042502 (GRCh38)
                                  1:26368993 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26042501:G:T
                                  Gene:
                                  SLC30A2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488896219 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:26040827 (GRCh38)
                                    1:26367318 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26040826:C:T
                                    Gene:
                                    SLC30A2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488879311 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:26044336 (GRCh38)
                                      1:26370827 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26044335:G:T
                                      Gene:
                                      SLC30A2 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488388788 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:26047635 (GRCh38)
                                        1:26374126 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26047634:G:C
                                        Gene:
                                        SLC30A2 (Varview), LOC105376910 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.00003/8 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488219565 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          1:26036769 (GRCh38)
                                          1:26363260 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26036768:GGG:GG
                                          Gene:
                                          EXTL1 (Varview), SLC30A2 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GG=0./0 (ALFA)
                                          HGVS:

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