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Links from Nucleotide

Items: 1 to 20 of 854

1.

rs1490714717 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:68725926 (GRCh38)
    15:69018265 (GRCh37)
    Canonical SPDI:
    NC_000015.10:68725925:G:A
    Gene:
    CORO2B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490696804 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AGT [Show Flanks]
      Chromosome:
      15:68726908 (GRCh38)
      15:69019248 (GRCh37)
      Canonical SPDI:
      NC_000015.10:68726908:AGTAGT:AGTAGTAGT
      Gene:
      CORO2B (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGTAGTAGT=0./0 (ALFA)
      AGT=0.000008/2 (TOPMED)
      AGT=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490677161 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:68719502 (GRCh38)
        15:69011841 (GRCh37)
        Canonical SPDI:
        NC_000015.10:68719501:G:A
        Gene:
        CORO2B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000008/2 (TOPMED)
        HGVS:
        5.

        rs1489032579 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          15:68711659 (GRCh38)
          15:69003998 (GRCh37)
          Canonical SPDI:
          NC_000015.10:68711658:G:C
          Gene:
          CORO2B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1486780688 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:68727292 (GRCh38)
            15:69019631 (GRCh37)
            Canonical SPDI:
            NC_000015.10:68727291:G:A
            Gene:
            CORO2B (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            7.

            rs1482751206 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              15:68726494 (GRCh38)
              15:69018833 (GRCh37)
              Canonical SPDI:
              NC_000015.10:68726493:C:A
              Gene:
              CORO2B (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              9.

              rs1482013249 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:68711577 (GRCh38)
                15:69003916 (GRCh37)
                Canonical SPDI:
                NC_000015.10:68711576:G:A
                Gene:
                CORO2B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                10.

                rs1481167501 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:68719437 (GRCh38)
                  15:69011776 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:68719436:A:G
                  Gene:
                  CORO2B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  12.

                  rs1479266630 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    15:68641587 (GRCh38)
                    15:68933926 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:68641586:GGGG:GGG
                    Gene:
                    CORO2B (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,splice_donor_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GGG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    13.

                    rs1477888357 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:68726968 (GRCh38)
                      15:69019307 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:68726967:C:T
                      Gene:
                      CORO2B (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000026/7 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      14.

                      rs1477856514 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:68726063 (GRCh38)
                        15:69018402 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:68726062:A:G
                        Gene:
                        CORO2B (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        15.

                        rs1477804889 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:68725959 (GRCh38)
                          15:69018298 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:68725958:C:T
                          Gene:
                          CORO2B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_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:
                          16.

                          rs1476741205 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            15:68715271 (GRCh38)
                            15:69007610 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:68715270:C:A
                            Gene:
                            CORO2B (Varview)
                            Functional Consequence:
                            stop_gained,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            17.

                            rs1472311449 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:68695221 (GRCh38)
                              15:68987560 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:68695220:G:A
                              Gene:
                              CORO2B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              18.

                              rs1471650274 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:68695173 (GRCh38)
                                15:68987512 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:68695172:T:C
                                Gene:
                                CORO2B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                19.

                                rs1470849738 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  15:68726903 (GRCh38)
                                  15:69019242 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:68726902:A:C
                                  Gene:
                                  CORO2B (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  20.

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