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Items: 1 to 20 of 1671

1.

rs1491067473 has merged into rs113137656 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
    Chromosome:
    4:119803405 (GRCh38)
    4:120724560 (GRCh37)
    Canonical SPDI:
    NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:119803388:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
    Gene:
    LINC01365 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GAGAGAGAGAGAGAGAGA=0./0 (ALFA)
    HGVS:
    2.

    rs1490447821 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:119804672 (GRCh38)
      4:120725827 (GRCh37)
      Canonical SPDI:
      NC_000004.12:119804671:C:T
      Gene:
      LINC01365 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490398228 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:119803665 (GRCh38)
        4:120724820 (GRCh37)
        Canonical SPDI:
        NC_000004.12:119803664:A:G
        Gene:
        LINC01365 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490126618 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          4:119804540 (GRCh38)
          4:120725695 (GRCh37)
          Canonical SPDI:
          NC_000004.12:119804539:A:T
          Gene:
          LINC01365 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489225966 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:119799007 (GRCh38)
            4:120720162 (GRCh37)
            Canonical SPDI:
            NC_000004.12:119799006:T:C
            Gene:
            LINC01365 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489103666 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              4:119799107 (GRCh38)
              4:120720262 (GRCh37)
              Canonical SPDI:
              NC_000004.12:119799106:T:G
              Gene:
              LINC01365 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1488630490 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:119806050 (GRCh38)
                4:120727205 (GRCh37)
                Canonical SPDI:
                NC_000004.12:119806049:C:T
                Gene:
                LINC01365 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488555746 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:119802392 (GRCh38)
                  4:120723547 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:119802391:C:T
                  Gene:
                  LINC01365 (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:
                  9.

                  rs1487861386 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    4:119803535 (GRCh38)
                    4:120724690 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:119803534:G:C
                    Gene:
                    LINC01365 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1487774424 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      4:119800636 (GRCh38)
                      4:120721791 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:119800635:C:A,NC_000004.12:119800635:C:T
                      Gene:
                      LINC01365 (Varview)
                      Functional Consequence:
                      splice_donor_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486949484 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:119803219 (GRCh38)
                        4:120724374 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:119803218:G:A
                        Gene:
                        LINC01365 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000224/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        12.

                        rs1486106446 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          4:119803900 (GRCh38)
                          4:120725055 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:119803897:CTCT:CT
                          Gene:
                          LINC01365 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTCT=0.000071/1 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.000029/4 (GnomAD)
                          -=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1485362419 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            A>G
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1485124326 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:119802247 (GRCh38)
                              4:120723402 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:119802246:T:C
                              Gene:
                              LINC01365 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1484595878 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:119804526 (GRCh38)
                                4:120725681 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:119804525:G:A
                                Gene:
                                LINC01365 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483937861 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  4:119805580 (GRCh38)
                                  4:120726735 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:119805579:G:T
                                  Gene:
                                  LINC01365 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483795463 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:119806144 (GRCh38)
                                    4:120727299 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:119806143:G:A
                                    Gene:
                                    LINC01365 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483737933 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->CCATACACACGTATACATATACATATATGTATATATATAC [Show Flanks]
                                      Chromosome:
                                      4:119801038 (GRCh38)
                                      4:120722194 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:119801038:GTATATATATACCCATACACACGTATACATATACATATATGTATATATATAC:GTATATATATACCCATACACACGTATACATATACATATATGTATATATATACCCATACACACGTATACATATACATATATGTATATATATAC
                                      Gene:
                                      LINC01365 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GTATATATATACCCATACACACGTATACATATACATATATGTATATATATACCCATACACACGTATACATATACATATATGTATATATATAC=0.0025/11 (ALFA)
                                      GTATATATATACCCATACACACGTATACATATACATATAT=0.0003/2 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1482810145 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:119799700 (GRCh38)
                                        4:120720855 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:119799699:T:C
                                        Gene:
                                        LINC01365 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482759390 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:119802204 (GRCh38)
                                          4:120723359 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:119802203:G:A
                                          Gene:
                                          LINC01365 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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