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Items: 1 to 20 of 1258

1.

rs1491033958 has merged into rs71267468 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA [Show Flanks]
    Chromosome:
    2:110378987 (GRCh38)
    2:111136564 (GRCh37)
    Canonical SPDI:
    NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA
    Gene:
    LINC01106 (Varview), LIMS4 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACA=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.110378977CA[5], NC_000002.12:g.110378977CA[6], NC_000002.12:g.110378977CA[7], NC_000002.12:g.110378977CA[8], NC_000002.12:g.110378977CA[9], NC_000002.12:g.110378977CA[10], NC_000002.12:g.110378977CA[11], NC_000002.12:g.110378977CA[12], NC_000002.12:g.110378977CA[14], NC_000002.11:g.111136554CA[5], NC_000002.11:g.111136554CA[6], NC_000002.11:g.111136554CA[7], NC_000002.11:g.111136554CA[8], NC_000002.11:g.111136554CA[9], NC_000002.11:g.111136554CA[10], NC_000002.11:g.111136554CA[11], NC_000002.11:g.111136554CA[12], NC_000002.11:g.111136554CA[14], XM_017003105.3:c.*8285GT[5], XM_017003105.3:c.*8285GT[6], XM_017003105.3:c.*8285GT[7], XM_017003105.3:c.*8285GT[8], XM_017003105.3:c.*8285GT[9], XM_017003105.3:c.*8285GT[10], XM_017003105.3:c.*8285GT[11], XM_017003105.3:c.*8285GT[12], XM_017003105.3:c.*8285GT[14]
    2.

    rs1490913941 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:110382967 (GRCh38)
      2:111140544 (GRCh37)
      Canonical SPDI:
      NC_000002.12:110382966:C:T
      Gene:
      LINC01106 (Varview), LIMS4 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490465712 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:110382022 (GRCh38)
        2:111139599 (GRCh37)
        Canonical SPDI:
        NC_000002.12:110382021:G:A
        Gene:
        LINC01106 (Varview), LIMS4 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.00014/2 (TOMMO)
        HGVS:
        4.

        rs1490346934 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          2:110385382 (GRCh38)
          2:111142959 (GRCh37)
          Canonical SPDI:
          NC_000002.12:110385381:T:G
          Gene:
          LINC01106 (Varview), LIMS4 (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.0002/1 (ALFA)
          HGVS:
          5.

          rs1490301483 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:110379421 (GRCh38)
            2:111136998 (GRCh37)
            Canonical SPDI:
            NC_000002.12:110379420:T:C
            Gene:
            LINC01106 (Varview), LIMS4 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1489857105 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              2:110382110 (GRCh38)
              2:111139687 (GRCh37)
              Canonical SPDI:
              NC_000002.12:110382109:T:A
              Gene:
              LINC01106 (Varview), LIMS4 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.00923/148 (TOMMO)
              A=0.0248/637 (GnomAD)
              T=0.5/2 (SGDP_PRJ)
              HGVS:
              7.

              rs1488937859 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                2:110379090 (GRCh38)
                2:111136667 (GRCh37)
                Canonical SPDI:
                NC_000002.12:110379089:A:C,NC_000002.12:110379089:A:G
                Gene:
                LINC01106 (Varview), LIMS4 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.001056/16 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488864243 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  2:110385922 (GRCh38)
                  2:111143499 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:110385921:CCC:CC
                  Gene:
                  LINC01106 (Varview), LIMS4 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0.00017/2 (ALFA)
                  -=0.00072/36 (GnomAD)
                  HGVS:
                  9.

                  rs1488815032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:110379101 (GRCh38)
                    2:111136678 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:110379100:A:G
                    Gene:
                    LINC01106 (Varview), LIMS4 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1487900259 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:110382479 (GRCh38)
                      2:111140056 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:110382478:A:G
                      Gene:
                      LINC01106 (Varview), LIMS4 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.00025/3 (ALFA)
                      G=0.00031/2 (1000Genomes)
                      G=0.00073/16 (GnomAD)
                      HGVS:
                      11.

                      rs1487728771 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        2:110382153 (GRCh38)
                        2:111139730 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:110382152:AT:
                        Gene:
                        LINC01106 (Varview), LIMS4 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.00008/1 (ALFA)
                        -=0.00108/45 (GnomAD)
                        HGVS:
                        12.

                        rs1487482495 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:110386076 (GRCh38)
                          2:111143653 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:110386075:T:C
                          Gene:
                          LINC01106 (Varview), LIMS4 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000036/1 (TOMMO)
                          HGVS:
                          13.

                          rs1487452509 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            2:110385380 (GRCh38)
                            2:111142957 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:110385379:G:A,NC_000002.12:110385379:G:C
                            Gene:
                            LINC01106 (Varview), LIMS4 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1486980459 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:110374898 (GRCh38)
                              2:111132475 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:110374897:T:C
                              Gene:
                              LINC01106 (Varview), LIMS4 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.00017/2 (ALFA)
                              HGVS:
                              15.

                              rs1486950181 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:110375731 (GRCh38)
                                2:111133308 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:110375730:T:C
                                Gene:
                                LINC01106 (Varview), LIMS4 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.0247/293 (ALFA)
                                C=0.00118/2 (GnomAD)
                                C=0.05452/140 (KOREAN)
                                HGVS:
                                16.

                                rs1486941568 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  2:110377189 (GRCh38)
                                  2:111134766 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:110377188:G:A,NC_000002.12:110377188:G:T
                                  Gene:
                                  LINC01106 (Varview), LIMS4 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000016/2 (GnomAD)
                                  A=0.000036/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1486929954 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:110376541 (GRCh38)
                                    2:111134118 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:110376540:C:T
                                    Gene:
                                    LINC01106 (Varview), LIMS4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.00005/1 (GnomAD)
                                    T=0.00016/1 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1486854067 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:110376015 (GRCh38)
                                      2:111133592 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:110376014:G:A
                                      Gene:
                                      LINC01106 (Varview), LIMS4 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485957662 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:110384878 (GRCh38)
                                        2:111142455 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:110384877:C:G
                                        Gene:
                                        LINC01106 (Varview), LIMS4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.00006/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485758093 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          2:110375254 (GRCh38)
                                          2:111132831 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:110375253:G:C
                                          Gene:
                                          LINC01106 (Varview), LIMS4 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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