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Items: 1 to 20 of 1000

1.

rs1491571834 has merged into rs72247833 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
    Chromosome:
    19:18324890 (GRCh38)
    19:18435700 (GRCh37)
    Canonical SPDI:
    NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
    Gene:
    LSM4 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    HGVS:
    2.

    rs1490977325 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      19:18324027 (GRCh38)
      19:18434837 (GRCh37)
      Canonical SPDI:
      NC_000019.10:18324021:TGTGTGT:TGTGT
      Gene:
      LSM4 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGT=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490673571 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:18317385 (GRCh38)
        19:18428195 (GRCh37)
        Canonical SPDI:
        NC_000019.10:18317384:T:C
        Gene:
        LSM4 (Varview), LOC105372300 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        HGVS:
        4.

        rs1490305450 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          19:18317443 (GRCh38)
          19:18428253 (GRCh37)
          Canonical SPDI:
          NC_000019.10:18317442:C:G
          Gene:
          LSM4 (Varview), LOC105372300 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490272355 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            19:18313989 (GRCh38)
            19:18424799 (GRCh37)
            Canonical SPDI:
            NC_000019.10:18313988:T:G
            Gene:
            LSM4 (Varview), LOC105372300 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490026366 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:18310279 (GRCh38)
              19:18421089 (GRCh37)
              Canonical SPDI:
              NC_000019.10:18310278:T:C
              Gene:
              LSM4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489685312 has merged into rs56871762 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT [Show Flanks]
                Chromosome:
                19:18324875 (GRCh38)
                19:18435685 (GRCh37)
                Canonical SPDI:
                NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT
                Gene:
                LSM4 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATATATATAT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489180256 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  19:18317772 (GRCh38)
                  19:18428582 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:18317771:C:A
                  Gene:
                  LSM4 (Varview), LOC105372300 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489118508 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:18308682 (GRCh38)
                    19:18419492 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:18308681:C:T
                    Gene:
                    LSM4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000023/6 (TOPMED)
                    T=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1488731338 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:18315221 (GRCh38)
                      19:18426031 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:18315220:G:A
                      Gene:
                      LSM4 (Varview), LOC105372300 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1488519101 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:18314422 (GRCh38)
                        19:18425232 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:18314421:G:T
                        Gene:
                        LSM4 (Varview), LOC105372300 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_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:
                        12.

                        rs1488342927 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:18311882 (GRCh38)
                          19:18422692 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:18311881:G:A
                          Gene:
                          LSM4 (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:
                          13.

                          rs1488036319 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:18323539 (GRCh38)
                            19:18434349 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:18323538:G:A
                            Gene:
                            LSM4 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487826289 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              19:18312350 (GRCh38)
                              19:18423160 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:18312349:A:C
                              Gene:
                              LSM4 (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.

                              rs1487458670 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                19:18320175 (GRCh38)
                                19:18430985 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:18320174:A:T
                                Gene:
                                LSM4 (Varview), LOC105372300 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1487303458 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:18310309 (GRCh38)
                                  19:18421119 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:18310308:C:T
                                  Gene:
                                  LSM4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  17.

                                  rs1487231820 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    19:18307081 (GRCh38)
                                    19:18417891 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:18307080:T:A,NC_000019.10:18307080:T:C
                                    Gene:
                                    LSM4 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487228625 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:18308260 (GRCh38)
                                      19:18419070 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:18308259:C:T
                                      Gene:
                                      LSM4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000034/9 (TOPMED)
                                      T=0.00005/7 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486967441 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        19:18306745 (GRCh38)
                                        19:18417555 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:18306744:TTTT:TTT
                                        Gene:
                                        LSM4 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTT=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486952717 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          19:18306669 (GRCh38)
                                          19:18417479 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:18306668:A:C
                                          Gene:
                                          LSM4 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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