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Items: 1 to 20 of 2897

1.

rs1491380584 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    20:50310498 (GRCh38)
    20:48927035 (GRCh37)
    Canonical SPDI:
    NC_000020.11:50310497:AT:
    Gene:
    LINC01270 (Varview), LINC01271 (Varview)
    Functional Consequence:
    500B_downstream_variant,intron_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1491201467 has merged into rs35112192 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      20:50319268 (GRCh38)
      20:48935805 (GRCh37)
      Canonical SPDI:
      NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50319258:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC01271 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.50319268_50319283del, NC_000020.11:g.50319269_50319283del, NC_000020.11:g.50319270_50319283del, NC_000020.11:g.50319271_50319283del, NC_000020.11:g.50319272_50319283del, NC_000020.11:g.50319273_50319283del, NC_000020.11:g.50319274_50319283del, NC_000020.11:g.50319276_50319283del, NC_000020.11:g.50319277_50319283del, NC_000020.11:g.50319278_50319283del, NC_000020.11:g.50319279_50319283del, NC_000020.11:g.50319280_50319283del, NC_000020.11:g.50319281_50319283del, NC_000020.11:g.50319282_50319283del, NC_000020.11:g.50319283del, NC_000020.11:g.50319283dup, NC_000020.11:g.50319282_50319283dup, NC_000020.11:g.50319281_50319283dup, NC_000020.11:g.50319280_50319283dup, NC_000020.11:g.50319279_50319283dup, NC_000020.11:g.50319278_50319283dup, NC_000020.11:g.50319277_50319283dup, NC_000020.11:g.50319276_50319283dup, NC_000020.11:g.50319275_50319283dup, NC_000020.11:g.50319274_50319283dup, NC_000020.11:g.50319273_50319283dup, NC_000020.11:g.50319271_50319283dup, NC_000020.11:g.50319267_50319283dup, NC_000020.11:g.50319265_50319283dup, NC_000020.11:g.50319283_50319284insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.50319283_50319284insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.50319283_50319284insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.48935805_48935820del, NC_000020.10:g.48935806_48935820del, NC_000020.10:g.48935807_48935820del, NC_000020.10:g.48935808_48935820del, NC_000020.10:g.48935809_48935820del, NC_000020.10:g.48935810_48935820del, NC_000020.10:g.48935811_48935820del, NC_000020.10:g.48935813_48935820del, NC_000020.10:g.48935814_48935820del, NC_000020.10:g.48935815_48935820del, NC_000020.10:g.48935816_48935820del, NC_000020.10:g.48935817_48935820del, NC_000020.10:g.48935818_48935820del, NC_000020.10:g.48935819_48935820del, NC_000020.10:g.48935820del, NC_000020.10:g.48935820dup, NC_000020.10:g.48935819_48935820dup, NC_000020.10:g.48935818_48935820dup, NC_000020.10:g.48935817_48935820dup, NC_000020.10:g.48935816_48935820dup, NC_000020.10:g.48935815_48935820dup, NC_000020.10:g.48935814_48935820dup, NC_000020.10:g.48935813_48935820dup, NC_000020.10:g.48935812_48935820dup, NC_000020.10:g.48935811_48935820dup, NC_000020.10:g.48935810_48935820dup, NC_000020.10:g.48935808_48935820dup, NC_000020.10:g.48935804_48935820dup, NC_000020.10:g.48935802_48935820dup, NC_000020.10:g.48935820_48935821insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.48935820_48935821insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.48935820_48935821insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491175816 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->ATTT [Show Flanks]
        Chromosome:
        20:50319259 (GRCh38)
        20:48935797 (GRCh37)
        Canonical SPDI:
        NC_000020.11:50319259:TTT:TTTATTT
        Gene:
        LINC01271 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        TTTA=0.00002/1 (GnomAD)
        HGVS:
        4.

        rs1490778924 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCATTCATCCATCCACTCATCCACCCAC>-,CCATTCATCCATCCACTCATCCACCCACCCATTCATCCATCCACTCATCCACCCAC [Show Flanks]
          Chromosome:
          20:50322962 (GRCh38)
          20:48939499 (GRCh37)
          Canonical SPDI:
          NC_000020.11:50322956:CCCACCCATTCATCCATCCACTCATCCACCCAC:CCCAC,NC_000020.11:50322956:CCCACCCATTCATCCATCCACTCATCCACCCAC:CCCACCCATTCATCCATCCACTCATCCACCCACCCATTCATCCATCCACTCATCCACCCAC
          Gene:
          LINC01271 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCAC=0.00034/4 (ALFA)
          -=0.00062/4 (1000Genomes)
          HGVS:
          5.

          rs1490727587 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:50322005 (GRCh38)
            20:48938542 (GRCh37)
            Canonical SPDI:
            NC_000020.11:50322004:C:T
            Gene:
            LINC01271 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            T=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1490487960 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              20:50321076 (GRCh38)
              20:48937613 (GRCh37)
              Canonical SPDI:
              NC_000020.11:50321075:T:A,NC_000020.11:50321075:T:C
              Gene:
              LINC01271 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000007/1 (GnomAD)
              A=0.000685/2 (KOREAN)
              HGVS:
              7.

              rs1490289877 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                20:50322429 (GRCh38)
                20:48938966 (GRCh37)
                Canonical SPDI:
                NC_000020.11:50322428:G:A,NC_000020.11:50322428:G:C,NC_000020.11:50322428:G:T
                Gene:
                LINC01271 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1489676074 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:50317579 (GRCh38)
                  20:48934116 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:50317578:C:T
                  Gene:
                  LINC01271 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489315055 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ACTAGC [Show Flanks]
                    Chromosome:
                    20:50316433 (GRCh38)
                    20:48932971 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:50316433:GCACTAGC:GCACTAGCACTAGC
                    Gene:
                    LINC01271 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GCACTAGCACTAGC=0./0 (ALFA)
                    GCACTA=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489283851 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      20:50313776 (GRCh38)
                      20:48930313 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:50313775:T:C,NC_000020.11:50313775:T:G
                      Gene:
                      LINC01270 (Varview), LINC01271 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489050693 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:50312846 (GRCh38)
                        20:48929383 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:50312845:G:A
                        Gene:
                        LINC01270 (Varview), LINC01271 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1489030603 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:50313398 (GRCh38)
                          20:48929935 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:50313397:A:G
                          Gene:
                          LINC01270 (Varview), LINC01271 (Varview)
                          Functional Consequence:
                          non_coding_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:
                          13.

                          rs1487994545 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:50314922 (GRCh38)
                            20:48931459 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:50314921:A:G
                            Gene:
                            LINC01270 (Varview), LINC01271 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,intron_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:
                            14.

                            rs1487970269 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:50314295 (GRCh38)
                              20:48930832 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:50314294:T:C
                              Gene:
                              LINC01270 (Varview), LINC01271 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487717676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                20:50318451 (GRCh38)
                                20:48934988 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:50318450:A:G,NC_000020.11:50318450:A:T
                                Gene:
                                LINC01271 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1487497164 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TTTTTTTG>- [Show Flanks]
                                  Chromosome:
                                  20:50316569 (GRCh38)
                                  20:48933106 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:50316568:TTTTTTTG:
                                  Gene:
                                  LINC01271 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0.00244/29 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487308200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:50310766 (GRCh38)
                                    20:48927303 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:50310765:C:T
                                    Gene:
                                    LINC01270 (Varview), LINC01271 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486997801 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:50314851 (GRCh38)
                                      20:48931388 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:50314850:C:T
                                      Gene:
                                      LINC01270 (Varview), LINC01271 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.0002/1 (ALFA)
                                      T=0.0002/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1486970946 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:50311506 (GRCh38)
                                        20:48928043 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:50311505:T:C
                                        Gene:
                                        LINC01270 (Varview), LINC01271 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486685344 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          20:50319378 (GRCh38)
                                          20:48935915 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:50319377:C:A
                                          Gene:
                                          LINC01271 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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