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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491545115 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    13:45108286 (GRCh38)
    13:45682421 (GRCh37)
    Canonical SPDI:
    NC_000013.11:45108284:TCT:T
    Gene:
    LOC101929259 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491239408 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      13:45108285 (GRCh38)
      13:45682421 (GRCh37)
      Canonical SPDI:
      NC_000013.11:45108285:C:CC
      Gene:
      LOC101929259 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      C=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1491035341 has merged into rs1555262357 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>-,CACA [Show Flanks]
        Chromosome:
        13:45113009 (GRCh38)
        13:45687144 (GRCh37)
        Canonical SPDI:
        NC_000013.11:45113001:ACACACACA:ACACACA,NC_000013.11:45113001:ACACACACA:ACACACACACA
        Gene:
        LOC101929259 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACA=0./0 (ALFA)
        HGVS:
        4.

        rs1490768155 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:45111661 (GRCh38)
          13:45685796 (GRCh37)
          Canonical SPDI:
          NC_000013.11:45111660:A:G
          Gene:
          LOC101929259 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000086/12 (GnomAD)
          HGVS:
          5.

          rs1490732030 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            13:45111828 (GRCh38)
            13:45685963 (GRCh37)
            Canonical SPDI:
            NC_000013.11:45111827:C:A
            Gene:
            LOC101929259 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000019/5 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1490716259 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACC>- [Show Flanks]
              Chromosome:
              13:45109618 (GRCh38)
              13:45683753 (GRCh37)
              Canonical SPDI:
              NC_000013.11:45109614:ACCACC:ACC
              Gene:
              LOC101929259 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACCACC=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490520461 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:45111573 (GRCh38)
                13:45685708 (GRCh37)
                Canonical SPDI:
                NC_000013.11:45111572:C:T
                Gene:
                LOC101929259 (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:
                8.

                rs1489913740 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:45110733 (GRCh38)
                  13:45684868 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:45110732:A:G
                  Gene:
                  LOC101929259 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489343837 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:45106261 (GRCh38)
                    13:45680396 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:45106260:G:A
                    Gene:
                    LOC101929259 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489240655 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      13:45113704 (GRCh38)
                      13:45687839 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:45113703:C:G,NC_000013.11:45113703:C:T
                      Gene:
                      LOC101929259 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489097214 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        13:45112568 (GRCh38)
                        13:45686703 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:45112567:G:A,NC_000013.11:45112567:G:T
                        Gene:
                        LOC101929259 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1488964028 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          13:45112853 (GRCh38)
                          13:45686988 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:45112852:G:T
                          Gene:
                          LOC101929259 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488652008 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            13:45109612 (GRCh38)
                            13:45683747 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:45109611:G:T
                            Gene:
                            LOC101929259 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488578696 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTATT>- [Show Flanks]
                              Chromosome:
                              13:45105668 (GRCh38)
                              13:45679803 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:45105665:TTCTTATT:TT
                              Gene:
                              LOC101929259 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TT=0.000071/1 (ALFA)
                              -=0.000011/3 (TOPMED)
                              -=0.000022/3 (GnomAD)
                              HGVS:
                              15.

                              rs1488475477 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                13:45105961 (GRCh38)
                                13:45680096 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:45105960:C:T
                                Gene:
                                LOC101929259 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488372423 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  13:45107416 (GRCh38)
                                  13:45681551 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:45107415:G:A
                                  Gene:
                                  LOC101929259 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488003209 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    13:45110522 (GRCh38)
                                    13:45684657 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:45110521:T:
                                    Gene:
                                    LOC101929259 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487874470 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      13:45107543 (GRCh38)
                                      13:45681678 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:45107542:T:C
                                      Gene:
                                      LOC101929259 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487835008 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        13:45106932 (GRCh38)
                                        13:45681067 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:45106931:C:G
                                        Gene:
                                        LOC101929259 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487281313 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          13:45111007 (GRCh38)
                                          13:45685142 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:45111006:A:T
                                          Gene:
                                          LOC101929259 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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