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Links from Nucleotide

Items: 1 to 20 of 1826

1.

rs1490992030 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    8:7891227 (GRCh38)
    8:7748749 (GRCh37)
    Canonical SPDI:
    NC_000008.11:7891226:T:G
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    2.

    rs1490611018 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      8:7891505 (GRCh38)
      8:7749027 (GRCh37)
      Canonical SPDI:
      NC_000008.11:7891504:A:T
      Validated:
      by frequency,by alfa
      MAF:
      T=0.00008/1 (ALFA)
      T=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1490446521 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:7891800 (GRCh38)
        8:7749322 (GRCh37)
        Canonical SPDI:
        NC_000008.11:7891799:C:T
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1490244191 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          8:7893324 (GRCh38)
          8:7750846 (GRCh37)
          Canonical SPDI:
          NC_000008.11:7893323:A:G,NC_000008.11:7893323:A:T
          Gene:
          DEFB4A (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1489886952 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            8:7898479 (GRCh38)
            8:7756001 (GRCh37)
            Canonical SPDI:
            NC_000008.11:7898478:A:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489273113 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:7895083 (GRCh38)
              8:7752605 (GRCh37)
              Canonical SPDI:
              NC_000008.11:7895082:A:G
              Gene:
              DEFB4A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000011/1 (GnomAD)
              HGVS:
              7.

              rs1489144127 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                8:7893928 (GRCh38)
                8:7751450 (GRCh37)
                Canonical SPDI:
                NC_000008.11:7893927:G:T
                Gene:
                DEFB4A (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1488795590 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  8:7897813 (GRCh38)
                  8:7755335 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:7897812:C:A,NC_000008.11:7897812:C:G
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488379540 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    T>A
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1488166158 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      T>C
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1488121370 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:7897709 (GRCh38)
                        8:7755231 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:7897708:G:A
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1487615684 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:7897489 (GRCh38)
                          8:7755011 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:7897488:G:A
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1487605405 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            8:7890132 (GRCh38)
                            8:7747654 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:7890131:T:C,NC_000008.11:7890131:T:G
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487392634 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:7894182 (GRCh38)
                              8:7751704 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:7894181:C:T
                              Gene:
                              DEFB4A (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.00051/6 (ALFA)
                              T=0.00034/32 (GnomAD)
                              HGVS:
                              15.

                              rs1487235585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:7898094 (GRCh38)
                                8:7755616 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:7898093:G:A
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00002/2 (GnomAD)
                                HGVS:
                                16.

                                rs1487194594 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  8:7893695 (GRCh38)
                                  8:7751217 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:7893694:GGG:GG
                                  Gene:
                                  DEFB4A (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487177565 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:7892523 (GRCh38)
                                    8:7750045 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:7892522:T:G
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487138259 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:7896904 (GRCh38)
                                      8:7754426 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:7896903:C:T
                                      Gene:
                                      DEFB4A (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00012/7 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486833751 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:7892272 (GRCh38)
                                        8:7749794 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:7892271:C:T
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1486772618 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          8:7894601 (GRCh38)
                                          8:7752123 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:7894600:C:G
                                          Gene:
                                          DEFB4A (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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