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Links from Nucleotide

Items: 1 to 20 of 593

1.

rs1489598048 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:157099200 (GRCh38)
    1:157068992 (GRCh37)
    Canonical SPDI:
    NC_000001.11:157099199:G:A
    Gene:
    ETV3L (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489506569 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      1:157099345 (GRCh38)
      1:157069137 (GRCh37)
      Canonical SPDI:
      NC_000001.11:157099344:T:A
      Gene:
      ETV3L (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489276638 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:157093039 (GRCh38)
        1:157062831 (GRCh37)
        Canonical SPDI:
        NC_000001.11:157093038:G:A
        Gene:
        ETV3L (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487741772 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          1:157098718 (GRCh38)
          1:157068510 (GRCh37)
          Canonical SPDI:
          NC_000001.11:157098717:A:T
          Gene:
          ETV3L (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487129525 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:157092308 (GRCh38)
            1:157062100 (GRCh37)
            Canonical SPDI:
            NC_000001.11:157092307:C:T
            Gene:
            ETV3L (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000053/14 (TOPMED)
            T=0.000071/10 (GnomAD)
            HGVS:
            6.

            rs1484069061 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:157092957 (GRCh38)
              1:157062749 (GRCh37)
              Canonical SPDI:
              NC_000001.11:157092956:G:A
              Gene:
              ETV3L (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1483917535 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:157098869 (GRCh38)
                1:157068661 (GRCh37)
                Canonical SPDI:
                NC_000001.11:157098868:T:C
                Gene:
                ETV3L (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000008/2 (TOPMED)
                C=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1478809532 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:157099183 (GRCh38)
                  1:157068975 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:157099182:C:T
                  Gene:
                  ETV3L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1478132709 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:157097939 (GRCh38)
                    1:157067731 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:157097938:G:A
                    Gene:
                    ETV3L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1478003132 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      1:157099806 (GRCh38)
                      1:157069598 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:157099805:G:T
                      Gene:
                      ETV3L (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1477655425 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:157092980 (GRCh38)
                        1:157062772 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:157092979:A:G
                        Gene:
                        ETV3L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1477263053 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:157099325 (GRCh38)
                          1:157069117 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:157099324:G:C
                          Gene:
                          ETV3L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1476609164 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:157092416 (GRCh38)
                            1:157062208 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:157092415:T:C
                            Gene:
                            ETV3L (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1473894472 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              1:157092207 (GRCh38)
                              1:157061999 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:157092206:G:C
                              Gene:
                              ETV3L (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              HGVS:
                              15.

                              rs1469805144 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:157099334 (GRCh38)
                                1:157069126 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:157099333:C:T
                                Gene:
                                ETV3L (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1467351670 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:157092736 (GRCh38)
                                  1:157062528 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:157092735:C:A
                                  Gene:
                                  ETV3L (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1467237261 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:157093045 (GRCh38)
                                    1:157062837 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:157093044:G:A
                                    Gene:
                                    ETV3L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000006/1 (GnomAD_exomes)
                                    A=0.000026/7 (TOPMED)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1465776930 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:157098801 (GRCh38)
                                      1:157068593 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:157098800:A:G
                                      Gene:
                                      ETV3L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1465545511 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:157092301 (GRCh38)
                                        1:157062093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:157092300:C:T
                                        Gene:
                                        ETV3L (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1465255293 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:157093057 (GRCh38)
                                          1:157062849 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:157093056:C:G
                                          Gene:
                                          ETV3L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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