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Items: 1 to 20 of 1748

1.

rs1491576686 has merged into rs369672125 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TGTGTG>-,TG,TGTG,TGTGTGTG [Show Flanks]
    Chromosome:
    7:36096232 (GRCh38)
    7:36135842 (GRCh37)
    Canonical SPDI:
    NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTGTGTGTG
    Gene:
    LOC101928618 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTG=0./0 (ALFA)
    -=0.00011/2 (TOMMO)
    -=0.00216/8 (TWINSUK)
    -=0.00441/17 (ALSPAC)
    HGVS:
    2.

    rs1491337139 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AG [Show Flanks]
      Chromosome:
      7:36096236 (GRCh38)
      7:36135847 (GRCh37)
      Canonical SPDI:
      NC_000007.14:36096236:GAG:GAGAG
      Gene:
      LOC101928618 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GAGAG=0./0 (ALFA)
      HGVS:
      3.

      rs1490874991 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:36100304 (GRCh38)
        7:36139914 (GRCh37)
        Canonical SPDI:
        NC_000007.14:36100303:G:A
        Gene:
        LOC101928618 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000015/4 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490385164 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          7:36099817 (GRCh38)
          7:36139427 (GRCh37)
          Canonical SPDI:
          NC_000007.14:36099816:A:G
          Gene:
          LOC101928618 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489113370 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            7:36100962 (GRCh38)
            7:36140572 (GRCh37)
            Canonical SPDI:
            NC_000007.14:36100961:T:G
            Gene:
            LOC101928618 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1488657239 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              7:36097827 (GRCh38)
              7:36137437 (GRCh37)
              Canonical SPDI:
              NC_000007.14:36097826:AA:A
              Gene:
              LOC101928618 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AA=0./0 (ALFA)
              -=0.000023/6 (TOPMED)
              -=0.000156/1 (1000Genomes)
              HGVS:
              7.

              rs1488506990 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:36097307 (GRCh38)
                7:36136917 (GRCh37)
                Canonical SPDI:
                NC_000007.14:36097306:G:A
                Gene:
                LOC101928618 (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:
                8.

                rs1488059355 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:36098740 (GRCh38)
                  7:36138350 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:36098739:G:A
                  Gene:
                  LOC101928618 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1487679260 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    7:36093998 (GRCh38)
                    7:36133608 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:36093997:C:A
                    Gene:
                    LOC101928618 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1487664322 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:36094893 (GRCh38)
                      7:36134503 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:36094892:G:A
                      Gene:
                      LOC101928618 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487440109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:36098399 (GRCh38)
                        7:36138009 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:36098398:C:T
                        Gene:
                        LOC101928618 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487148497 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          7:36094394 (GRCh38)
                          7:36134004 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:36094393:T:C,NC_000007.14:36094393:T:G
                          Gene:
                          LOC101928618 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.0038/7 (Korea1K)
                          HGVS:
                          13.

                          rs1486795214 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            7:36095943 (GRCh38)
                            7:36135554 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:36095943:T:TT
                            Gene:
                            LOC101928618 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TT=0./0 (ALFA)
                            T=0.000021/3 (GnomAD)
                            T=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1486165095 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              7:36095626 (GRCh38)
                              7:36135236 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:36095625:G:A,NC_000007.14:36095625:G:T
                              Gene:
                              LOC101928618 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1485581599 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:36101046 (GRCh38)
                                7:36140656 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:36101045:A:G
                                Gene:
                                LOC101928618 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1485527814 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:36096417 (GRCh38)
                                  7:36136027 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:36096416:T:C
                                  Gene:
                                  LOC101928618 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485476068 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:36097442 (GRCh38)
                                    7:36137052 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:36097441:C:T
                                    Gene:
                                    LOC101928618 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484617032 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      7:36095601 (GRCh38)
                                      7:36135211 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:36095600:G:A,NC_000007.14:36095600:G:T
                                      Gene:
                                      LOC101928618 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484567147 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:36095500 (GRCh38)
                                        7:36135110 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:36095499:T:C
                                        Gene:
                                        LOC101928618 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484491227 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          7:36096921 (GRCh38)
                                          7:36136531 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:36096920:G:C
                                          Gene:
                                          LOC101928618 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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