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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1489465906 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:29840441 (GRCh38)
    16:29851762 (GRCh37)
    Canonical SPDI:
    NC_000016.10:29840440:G:A
    Gene:
    MVP (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    A=0.000005/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1488318202 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:29845946 (GRCh38)
      16:29857267 (GRCh37)
      Canonical SPDI:
      NC_000016.10:29845945:C:T
      Gene:
      MVP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000094/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487800068 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:29845933 (GRCh38)
        16:29857254 (GRCh37)
        Canonical SPDI:
        NC_000016.10:29845932:G:A
        Gene:
        MVP (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1484840631 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          16:29836722 (GRCh38)
          16:29848043 (GRCh37)
          Canonical SPDI:
          NC_000016.10:29836721:A:G
          Gene:
          MVP (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000224/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1484145631 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:29847972 (GRCh38)
            16:29859293 (GRCh37)
            Canonical SPDI:
            NC_000016.10:29847971:G:C
            Gene:
            MVP (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000094/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1483227983 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:29831034 (GRCh38)
              16:29842355 (GRCh37)
              Canonical SPDI:
              NC_000016.10:29831033:G:A
              Gene:
              MVP (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1481030733 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:29840388 (GRCh38)
                16:29851709 (GRCh37)
                Canonical SPDI:
                NC_000016.10:29840387:G:A
                Gene:
                MVP (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000005/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1480786418 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:29847781 (GRCh38)
                  16:29859102 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:29847780:T:C
                  Gene:
                  MVP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480649794 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:29831072 (GRCh38)
                    16:29842393 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:29831071:A:G
                    Gene:
                    MVP (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.
                    11.

                    rs1478428126 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:29846235 (GRCh38)
                      16:29857556 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:29846234:G:A
                      Gene:
                      MVP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      12.

                      rs1478359223 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        16:29848033 (GRCh38)
                        16:29859354 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:29848032:A:G,NC_000016.10:29848032:A:T
                        Gene:
                        MVP (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1477216688 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          16:29820490 (GRCh38)
                          16:29831811 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:29820489:C:G,NC_000016.10:29820489:C:T
                          Gene:
                          MVP (Varview), PAGR1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          14.

                          rs1473965141 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:29836807 (GRCh38)
                            16:29848128 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:29836806:T:G
                            Gene:
                            MVP (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            15.

                            rs1472714376 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              16:29844780 (GRCh38)
                              16:29856101 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:29844779:A:C
                              Gene:
                              MVP (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1472462709 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:29844704 (GRCh38)
                                16:29856025 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:29844703:G:A
                                Gene:
                                MVP (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1471876925 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:29830558 (GRCh38)
                                  16:29841879 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:29830557:T:C
                                  Gene:
                                  MVP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1470958346 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:29830994 (GRCh38)
                                    16:29842315 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:29830993:T:C
                                    Gene:
                                    MVP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    19.

                                    rs1470754041 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:29841919 (GRCh38)
                                      16:29853240 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:29841918:G:A
                                      Gene:
                                      MVP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      HGVS:
                                      20.

                                      rs1470070649 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:29845881 (GRCh38)
                                        16:29857202 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:29845880:G:A
                                        Gene:
                                        MVP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:

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