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Items: 1 to 20 of 1885

1.

rs1491523434 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    1:95060128 (GRCh38)
    1:95525685 (GRCh37)
    Canonical SPDI:
    NC_000001.11:95060128::C
    Gene:
    ALG14 (Varview), ALG14-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    HGVS:
    2.

    rs1491447333 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      1:95060129 (GRCh38)
      1:95525685 (GRCh37)
      Canonical SPDI:
      NC_000001.11:95060127:AAA:A
      Gene:
      ALG14 (Varview), ALG14-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.00008/1 (ALFA)
      -=0.00026/19 (GnomAD)
      HGVS:
      3.

      rs1490210944 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:95060062 (GRCh38)
        1:95525618 (GRCh37)
        Canonical SPDI:
        NC_000001.11:95060061:A:T
        Gene:
        ALG14 (Varview), ALG14-AS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489787085 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:95067505 (GRCh38)
          1:95533061 (GRCh37)
          Canonical SPDI:
          NC_000001.11:95067504:T:C
          Gene:
          ALG14 (Varview), ALG14-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489195225 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:95067373 (GRCh38)
            1:95532929 (GRCh37)
            Canonical SPDI:
            NC_000001.11:95067372:T:C
            Gene:
            ALG14 (Varview), ALG14-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488626172 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:95060090 (GRCh38)
              1:95525646 (GRCh37)
              Canonical SPDI:
              NC_000001.11:95060089:C:G
              Gene:
              ALG14 (Varview), ALG14-AS1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000021/3 (GnomAD)
              G=0.000042/11 (TOPMED)
              HGVS:
              7.

              rs1488607976 has merged into rs1211071279 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>-,GG [Show Flanks]
                Chromosome:
                1:95065114 (GRCh38)
                1:95530670 (GRCh37)
                Canonical SPDI:
                NC_000001.11:95065113:GGGGGGG:GGGGGG,NC_000001.11:95065113:GGGGGGG:GGGGGGGG
                Gene:
                ALG14 (Varview), ALG14-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGGG=0./0 (ALFA)
                -=0.000026/7 (TOPMED)
                -=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1487930431 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:95067019 (GRCh38)
                  1:95532575 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:95067018:T:C
                  Gene:
                  ALG14 (Varview), ALG14-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1487500431 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:95060262 (GRCh38)
                    1:95525818 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:95060261:G:A
                    Gene:
                    ALG14 (Varview), ALG14-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1486990411 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      1:95061035 (GRCh38)
                      1:95526591 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:95061034:G:T
                      Gene:
                      ALG14 (Varview), ALG14-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486665708 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:95062167 (GRCh38)
                        1:95527723 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:95062166:C:T
                        Gene:
                        ALG14 (Varview), ALG14-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1485475136 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          1:95064623 (GRCh38)
                          1:95530179 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:95064622:T:G
                          Gene:
                          ALG14 (Varview), ALG14-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1485202904 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:95060003 (GRCh38)
                            1:95525559 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:95060002:G:A
                            Gene:
                            ALG14 (Varview), ALG14-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1484999325 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              1:95062832 (GRCh38)
                              1:95528388 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:95062831:G:A,NC_000001.11:95062831:G:C
                              Gene:
                              ALG14 (Varview), ALG14-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484803653 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:95063982 (GRCh38)
                                1:95529538 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:95063981:G:C
                                Gene:
                                ALG14 (Varview), ALG14-AS1 (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:
                                16.

                                rs1484716855 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  1:95064121 (GRCh38)
                                  1:95529677 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:95064120:C:A,NC_000001.11:95064120:C:G,NC_000001.11:95064120:C:T
                                  Gene:
                                  ALG14 (Varview), ALG14-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00005/1 (ALFA)
                                  T=0.00022/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1484667991 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:95068009 (GRCh38)
                                    1:95533565 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:95068008:C:A
                                    Gene:
                                    ALG14 (Varview), ALG14-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484597033 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:95066943 (GRCh38)
                                      1:95532499 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:95066942:A:G
                                      Gene:
                                      ALG14 (Varview), ALG14-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484523832 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:95061730 (GRCh38)
                                        1:95527286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:95061729:A:T
                                        Gene:
                                        ALG14 (Varview), ALG14-AS1 (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:
                                        20.

                                        rs1484198890 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:95066002 (GRCh38)
                                          1:95531558 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:95066001:C:T
                                          Gene:
                                          ALG14 (Varview), ALG14-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:

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