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Items: 1 to 20 of 1000

1.

rs1491346193 has merged into rs1409458574 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AGAAAGAGAGAGAGAGAAA>-,AGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA [Show Flanks]
    Chromosome:
    2:95046893 (GRCh38)
    2:95712638 (GRCh37)
    Canonical SPDI:
    NC_000002.12:95046877:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA:AGAGAGAGAGAGAAA,NC_000002.12:95046877:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA
    Gene:
    MAL (Varview), LOC124906047 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA=0.000061/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491344444 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->AAGGGAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAAGAGA
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1490941389 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        2:95041837 (GRCh38)
        2:95707582 (GRCh37)
        Canonical SPDI:
        NC_000002.12:95041836:T:G
        Gene:
        MAL (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1490806551 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          2:95039011 (GRCh38)
          2:95704756 (GRCh37)
          Canonical SPDI:
          NC_000002.12:95039010:G:A,NC_000002.12:95039010:G:T
          Gene:
          MAL (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.01065/174 (ALFA)
          A=0.00014/14 (GnomAD)
          A=0.00305/51 (TOMMO)
          A=0.01198/35 (KOREAN)
          HGVS:
          5.

          rs1490795863 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:95050035 (GRCh38)
            2:95715780 (GRCh37)
            Canonical SPDI:
            NC_000002.12:95050034:A:C
            Gene:
            MAL (Varview), LOC124906047 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490793514 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:95040414 (GRCh38)
              2:95706159 (GRCh37)
              Canonical SPDI:
              NC_000002.12:95040413:T:C
              Gene:
              MAL (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490604731 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:95024611 (GRCh38)
                2:95690356 (GRCh37)
                Canonical SPDI:
                NC_000002.12:95024610:C:T
                Gene:
                MAL (Varview), LOC124906046 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000224/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1490566146 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:95049155 (GRCh38)
                  2:95714900 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:95049154:G:A
                  Gene:
                  MAL (Varview), LOC124906047 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490533471 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GGTGAGTGAGTGACTGAGTG>-,GGTGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG [Show Flanks]
                    Chromosome:
                    2:95037347 (GRCh38)
                    2:95703092 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:95037328:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG:TGAGTGAGTGACTGAGTG,NC_000002.12:95037328:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG
                    Gene:
                    MAL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TGAGTGAGTGACTGAGTG=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490452158 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      2:95041293 (GRCh38)
                      2:95707038 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:95041292:G:A,NC_000002.12:95041292:G:T
                      Gene:
                      MAL (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1490316559 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:95025070 (GRCh38)
                        2:95690815 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:95025069:T:C
                        Gene:
                        MAL (Varview), LOC124906046 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.00031/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1490290592 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:95024082 (GRCh38)
                          2:95689827 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:95024081:A:G
                          Gene:
                          MAL (Varview), LOC124906046 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_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:
                          13.

                          rs1490264017 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:95024846 (GRCh38)
                            2:95690591 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:95024845:A:T
                            Gene:
                            MAL (Varview), LOC124906046 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490238375 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:95049934 (GRCh38)
                              2:95715679 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:95049933:G:A
                              Gene:
                              MAL (Varview), LOC124906047 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000019/5 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1490236396 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                2:95038094 (GRCh38)
                                2:95703839 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:95038093:G:T
                                Gene:
                                MAL (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489988467 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:95038619 (GRCh38)
                                  2:95704364 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:95038618:A:G
                                  Gene:
                                  MAL (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000283/8 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1489977675 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:95050542 (GRCh38)
                                    2:95716287 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:95050541:T:C
                                    Gene:
                                    MAL (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489777641 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:95030740 (GRCh38)
                                      2:95696485 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:95030739:T:C
                                      Gene:
                                      MAL (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      C=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489750239 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:95025947 (GRCh38)
                                        2:95691692 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:95025946:C:T
                                        Gene:
                                        MAL (Varview), LOC124906046 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.0002/1 (ALFA)
                                        T=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1489570822 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          2:95036971 (GRCh38)
                                          2:95702716 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:95036970:G:A,NC_000002.12:95036970:G:T
                                          Gene:
                                          MAL (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000026/7 (TOPMED)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:

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