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Items: 1 to 20 of 1503

1.

rs1491583375 has merged into rs138023031 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
    Chromosome:
    16:71515690 (GRCh38)
    16:71549593 (GRCh37)
    Canonical SPDI:
    NC_000016.10:71515682:GGGGGGGGG:GGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:71515682:GGGGGGGGG:GGGGGGGGGGGGGGG
    Gene:
    LOC105371335 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGG=0./0 (ALFA)
    HGVS:
    2.

    rs1491298625 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      16:71516845 (GRCh38)
      16:71550748 (GRCh37)
      Canonical SPDI:
      NC_000016.10:71516844:CA:
      Gene:
      LOC105371335 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00497/59 (ALFA)
      HGVS:
      3.

      rs1491115432 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C,T [Show Flanks]
        Chromosome:
        16:71515683 (GRCh38)
        16:71549587 (GRCh37)
        Canonical SPDI:
        NC_000016.10:71515683::C,NC_000016.10:71515683::T
        Gene:
        LOC105371335 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491106480 has merged into rs57902389 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          16:71516851 (GRCh38)
          16:71550754 (GRCh37)
          Canonical SPDI:
          NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:71516845:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
          Gene:
          LOC105371335 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAA=0./0 (ALFA)
          -=0.4155/2081 (1000Genomes)
          HGVS:
          5.

          rs1491011986 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            16:71516861 (GRCh38)
            16:71550765 (GRCh37)
            Canonical SPDI:
            NC_000016.10:71516861::G
            Gene:
            LOC105371335 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000015/2 (GnomAD)
            HGVS:
            6.

            rs1490426529 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              16:71516863 (GRCh38)
              16:71550766 (GRCh37)
              Canonical SPDI:
              NC_000016.10:71516862:G:
              Gene:
              LOC105371335 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1490222618 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:71513851 (GRCh38)
                16:71547754 (GRCh37)
                Canonical SPDI:
                NC_000016.10:71513850:A:G
                Gene:
                LOC105371335 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1489571135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:71516414 (GRCh38)
                  16:71550317 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:71516413:G:A
                  Gene:
                  LOC105371335 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000084/1 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1489508801 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    16:71513161 (GRCh38)
                    16:71547064 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:71513160:A:T
                    Gene:
                    LOC105371335 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489399599 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:71513925 (GRCh38)
                      16:71547828 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:71513924:C:G
                      Gene:
                      LOC105371335 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1488198534 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        16:71518194 (GRCh38)
                        16:71552097 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:71518193:T:A
                        Gene:
                        LOC105371335 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487866082 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          16:71512230 (GRCh38)
                          16:71546133 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:71512229:T:A
                          Gene:
                          LOC105371335 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000023/6 (TOPMED)
                          A=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1486972900 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            16:71518280 (GRCh38)
                            16:71552183 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:71518279:A:T
                            Gene:
                            LOC105371335 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486769394 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              16:71512068 (GRCh38)
                              16:71545971 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:71512067:T:G
                              Gene:
                              LOC105371335 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              G=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1486239111 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:71516387 (GRCh38)
                                16:71550290 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:71516386:T:C
                                Gene:
                                LOC105371335 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484287101 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:71514553 (GRCh38)
                                  16:71548456 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:71514552:C:T
                                  Gene:
                                  LOC105371335 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483728235 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:71514492 (GRCh38)
                                    16:71548395 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:71514491:A:G
                                    Gene:
                                    LOC105371335 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483285604 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:71514627 (GRCh38)
                                      16:71548530 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:71514626:T:C
                                      Gene:
                                      LOC105371335 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.00003/8 (TOPMED)
                                      C=0.000057/8 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482857147 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        C>A
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1482615898 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          16:71512543 (GRCh38)
                                          16:71546446 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:71512542:C:A
                                          Gene:
                                          LOC105371335 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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