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Links from Gene

Items: 1 to 20 of 1852

1.

rs1491384953 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CGGGG [Show Flanks]
    Chromosome:
    11:20157006 (GRCh38)
    11:20178553 (GRCh37)
    Canonical SPDI:
    NC_000011.10:20157006:GGGG:GGGGCGGGG
    Gene:
    DBX1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    GGGGCGGGG=0./0 (ALFA)
    GGGGC=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1491225937 has merged into rs372654166 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAA>-,AAA,AAAAA,AAAAAA [Show Flanks]
      Chromosome:
      11:20159635 (GRCh38)
      11:20181181 (GRCh37)
      Canonical SPDI:
      NC_000011.10:20159627:AAAAAAAAAAA:AAAAAAA,NC_000011.10:20159627:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:20159627:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:20159627:AAAAAAAAAAA:AAAAAAAAAAAAA
      Gene:
      DBX1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      HGVS:
      3.

      rs1490585208 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        11:20160157 (GRCh38)
        11:20181703 (GRCh37)
        Canonical SPDI:
        NC_000011.10:20160156:G:T
        Gene:
        DBX1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        HGVS:
        4.

        rs1490414373 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:20155713 (GRCh38)
          11:20177259 (GRCh37)
          Canonical SPDI:
          NC_000011.10:20155712:A:G
          Gene:
          DBX1 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488488517 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:20160486 (GRCh38)
            11:20182032 (GRCh37)
            Canonical SPDI:
            NC_000011.10:20160485:C:T
            Gene:
            DBX1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1488367201 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              11:20160834 (GRCh38)
              11:20182380 (GRCh37)
              Canonical SPDI:
              NC_000011.10:20160833:G:T
              Gene:
              DBX1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1488160734 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                11:20156033 (GRCh38)
                11:20177579 (GRCh37)
                Canonical SPDI:
                NC_000011.10:20156032:G:C,NC_000011.10:20156032:G:T
                Gene:
                DBX1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.0004/2 (ALFA)
                HGVS:
                8.

                rs1487036871 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:20161960 (GRCh38)
                  11:20183506 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:20161959:A:G
                  Gene:
                  DBX1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486920679 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:20157475 (GRCh38)
                    11:20179021 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:20157474:C:G
                    Gene:
                    DBX1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486695482 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:20159562 (GRCh38)
                      11:20181108 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:20159561:G:A
                      Gene:
                      DBX1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486239487 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:20158300 (GRCh38)
                        11:20179846 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:20158299:C:T
                        Gene:
                        DBX1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1486047564 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          11:20160341 (GRCh38)
                          11:20181887 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:20160340:C:A,NC_000011.10:20160340:C:T
                          Gene:
                          DBX1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          HGVS:
                          13.

                          rs1484987968 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:20159025 (GRCh38)
                            11:20180571 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:20159024:G:A
                            Gene:
                            DBX1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1484738930 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:20161542 (GRCh38)
                              11:20183088 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:20161541:T:C
                              Gene:
                              DBX1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1483872193 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                11:20156662 (GRCh38)
                                11:20178208 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:20156661:G:A,NC_000011.10:20156661:G:C
                                Gene:
                                DBX1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                A=0.000071/2 (TOMMO)
                                HGVS:
                                16.

                                rs1483666478 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  11:20157365 (GRCh38)
                                  11:20178911 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:20157364:T:A,NC_000011.10:20157364:T:C
                                  Gene:
                                  DBX1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483654467 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:20155684 (GRCh38)
                                    11:20177230 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:20155683:G:A
                                    Gene:
                                    DBX1 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483287264 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:20161128 (GRCh38)
                                      11:20182674 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:20161127:T:C
                                      Gene:
                                      DBX1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482915308 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:20158412 (GRCh38)
                                        11:20179958 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:20158411:T:C
                                        Gene:
                                        DBX1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1482779561 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:20160215 (GRCh38)
                                          11:20181761 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:20160214:G:C
                                          Gene:
                                          DBX1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD_exomes)
                                          HGVS:

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