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Items: 1 to 20 of 10323

1.

rs1491078794 has merged into rs11330534 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    5:57570939 (GRCh38)
    5:56866766 (GRCh37)
    Canonical SPDI:
    NC_000005.10:57570935:AAAAAAAAAAAAA:AAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    LNCBRM (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    -=0.3754/1880 (1000Genomes)
    -=0.4031/237 (NorthernSweden)
    -=0.4567/1760 (ALSPAC)
    -=0.4622/1714 (TWINSUK)
    HGVS:
    2.

    rs1490965805 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      5:57575090 (GRCh38)
      5:56870917 (GRCh37)
      Canonical SPDI:
      NC_000005.10:57575089:T:A
      Gene:
      LNCBRM (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:
      3.

      rs1490897509 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        5:57613812 (GRCh38)
        5:56909639 (GRCh37)
        Canonical SPDI:
        NC_000005.10:57613811:T:G
        Gene:
        LNCBRM (Varview), LOC124901182 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490859566 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:57616150 (GRCh38)
          5:56911977 (GRCh37)
          Canonical SPDI:
          NC_000005.10:57616149:T:C
          Gene:
          LNCBRM (Varview), LOC124901182 (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:
          5.

          rs1490792717 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            5:57577219 (GRCh38)
            5:56873046 (GRCh37)
            Canonical SPDI:
            NC_000005.10:57577218:T:A,NC_000005.10:57577218:T:C
            Gene:
            LNCBRM (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490787153 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:57608925 (GRCh38)
              5:56904752 (GRCh37)
              Canonical SPDI:
              NC_000005.10:57608924:C:T
              Gene:
              LNCBRM (Varview), LOC124901182 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490777069 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:57574549 (GRCh38)
                5:56870376 (GRCh37)
                Canonical SPDI:
                NC_000005.10:57574548:T:C
                Gene:
                LNCBRM (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490712408 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  5:57593576 (GRCh38)
                  5:56889403 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:57593575:A:G
                  Gene:
                  LNCBRM (Varview), LOC124901182 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490671429 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:57595970 (GRCh38)
                    5:56891797 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:57595969:C:T
                    Gene:
                    LNCBRM (Varview), LOC124901182 (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:
                    10.

                    rs1490536629 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:57606226 (GRCh38)
                      5:56902053 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:57606225:G:A
                      Gene:
                      LNCBRM (Varview), LOC124901182 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1490530665 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GATAAT>- [Show Flanks]
                        Chromosome:
                        5:57575833 (GRCh38)
                        5:56871660 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:57575828:TAATGATAAT:TAAT
                        Gene:
                        LNCBRM (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TAAT=0./0 (ALFA)
                        -=0.000014/2 (GnomAD)
                        -=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1490523628 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          5:57591970 (GRCh38)
                          5:56887797 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:57591969:T:G
                          Gene:
                          LNCBRM (Varview), LOC124901182 (Varview)
                          Functional Consequence:
                          intron_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.

                          rs1490423223 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:57610286 (GRCh38)
                            5:56906113 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:57610285:T:C
                            Gene:
                            LNCBRM (Varview), LOC124901182 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000029/4 (GnomAD)
                            C=0.000038/10 (TOPMED)
                            HGVS:
                            14.

                            rs1490212965 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              5:57594147 (GRCh38)
                              5:56889974 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:57594146:C:T
                              Gene:
                              LNCBRM (Varview), LOC124901182 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490187674 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:57592989 (GRCh38)
                                5:56888816 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:57592988:G:A
                                Gene:
                                LNCBRM (Varview), LOC124901182 (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:
                                16.

                                rs1490151006 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:57584677 (GRCh38)
                                  5:56880504 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:57584676:T:C
                                  Gene:
                                  LNCBRM (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:
                                  17.

                                  rs1490120388 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:57585912 (GRCh38)
                                    5:56881739 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:57585911:C:T
                                    Gene:
                                    LNCBRM (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490081356 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:57568422 (GRCh38)
                                      5:56864249 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:57568421:A:G
                                      Gene:
                                      LNCBRM (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490080701 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:57614992 (GRCh38)
                                        5:56910819 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:57614991:A:G
                                        Gene:
                                        LNCBRM (Varview), LOC124901182 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489960877 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:57575829 (GRCh38)
                                          5:56871656 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:57575828:T:C
                                          Gene:
                                          LNCBRM (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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