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Items: 1 to 20 of 1293

1.

rs1491270699 has merged into rs1482003579 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    13:75237456 (GRCh38)
    13:75811592 (GRCh37)
    Canonical SPDI:
    NC_000013.11:75237452:AGAGA:AGA
    Gene:
    CTAGE11P (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGA=0./0 (ALFA)
    -=0.000034/9 (TOPMED)
    HGVS:
    2.

    rs1490923863 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      13:75241408 (GRCh38)
      13:75815544 (GRCh37)
      Canonical SPDI:
      NC_000013.11:75241407:T:C,NC_000013.11:75241407:T:G
      Gene:
      CTAGE11P (Varview), LINC01078 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000015/4 (TOPMED)
      C=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1490436294 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        13:75241761 (GRCh38)
        13:75815897 (GRCh37)
        Canonical SPDI:
        NC_000013.11:75241760:G:A,NC_000013.11:75241760:G:T
        Gene:
        CTAGE11P (Varview), LINC01078 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        T=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1489237484 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          13:75238540 (GRCh38)
          13:75812676 (GRCh37)
          Canonical SPDI:
          NC_000013.11:75238539:C:A
          Gene:
          CTAGE11P (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488784062 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            13:75240868 (GRCh38)
            13:75815004 (GRCh37)
            Canonical SPDI:
            NC_000013.11:75240867:A:G
            Gene:
            CTAGE11P (Varview), LINC01078 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488530340 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:75239445 (GRCh38)
              13:75813581 (GRCh37)
              Canonical SPDI:
              NC_000013.11:75239444:C:T
              Gene:
              CTAGE11P (Varview), LINC01078 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488522451 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:75240193 (GRCh38)
                13:75814329 (GRCh37)
                Canonical SPDI:
                NC_000013.11:75240192:C:T
                Gene:
                CTAGE11P (Varview), LINC01078 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.0001/1 (ALFA)
                HGVS:
                8.

                rs1486662208 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:75242172 (GRCh38)
                  13:75816308 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:75242171:G:A
                  Gene:
                  CTAGE11P (Varview), LINC01078 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000214/3 (ALFA)
                  A=0.000035/1 (TOMMO)
                  A=0.000042/11 (TOPMED)
                  A=0.000079/11 (GnomAD)
                  A=0.000156/1 (1000Genomes)
                  A=0.000546/1 (Korea1K)
                  HGVS:
                  9.

                  rs1486634331 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    13:75237617 (GRCh38)
                    13:75811753 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:75237616:C:G
                    Gene:
                    CTAGE11P (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486602282 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      13:75238711 (GRCh38)
                      13:75812847 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:75238710:G:C
                      Gene:
                      CTAGE11P (Varview), LINC01078 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1485961461 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:75240603 (GRCh38)
                        13:75814739 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:75240602:T:C
                        Gene:
                        CTAGE11P (Varview), LINC01078 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000528/8 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000057/8 (GnomAD)
                        HGVS:
                        12.

                        rs1485931213 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          13:75238260 (GRCh38)
                          13:75812396 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:75238259:G:C,NC_000013.11:75238259:G:T
                          Gene:
                          CTAGE11P (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1485654523 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:75238093 (GRCh38)
                            13:75812229 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:75238092:G:A
                            Gene:
                            CTAGE11P (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1485267946 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:75238488 (GRCh38)
                              13:75812624 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:75238487:G:A
                              Gene:
                              CTAGE11P (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1484645577 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                13:75239684 (GRCh38)
                                13:75813820 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:75239683:C:A
                                Gene:
                                CTAGE11P (Varview), LINC01078 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1483690817 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  13:75240537 (GRCh38)
                                  13:75814674 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:75240537:CCC:CCCC
                                  Gene:
                                  CTAGE11P (Varview), LINC01078 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCC=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483314936 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:75241995 (GRCh38)
                                    13:75816131 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:75241994:G:A
                                    Gene:
                                    CTAGE11P (Varview), LINC01078 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000038/10 (TOPMED)
                                    A=0.000043/6 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482003579 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GA>- [Show Flanks]
                                      Chromosome:
                                      13:75237456 (GRCh38)
                                      13:75811592 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:75237452:AGAGA:AGA
                                      Gene:
                                      CTAGE11P (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AGA=0./0 (ALFA)
                                      -=0.000034/9 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480712497 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        13:75241150 (GRCh38)
                                        13:75815286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:75241149:A:T
                                        Gene:
                                        CTAGE11P (Varview), LINC01078 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479943797 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          13:75238203 (GRCh38)
                                          13:75812339 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:75238202:G:A,NC_000013.11:75238202:G:T
                                          Gene:
                                          CTAGE11P (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000637/11 (TOMMO)
                                          HGVS:

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