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Items: 1 to 20 of 4228

1.

rs1491344296 has merged into rs766700468 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA [Show Flanks]
    Chromosome:
    3:186841906 (GRCh38)
    3:186559695 (GRCh37)
    Canonical SPDI:
    NC_000003.12:186841904:ATA:A,NC_000003.12:186841904:ATA:ATATA
    Gene:
    ADIPOQ (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000214/3 (ALFA)
    -=0.0001/14 (GnomAD)
    -=0.000156/1 (1000Genomes)
    -=0.000185/49 (TOPMED)
    HGVS:
    2.

    rs1491114530 has merged into rs35615373 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      3:186843671 (GRCh38)
      3:186561460 (GRCh37)
      Canonical SPDI:
      NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:186843660:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ADIPOQ (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.2973/1489 (1000Genomes)
      HGVS:
      NC_000003.12:g.186843671_186843676del, NC_000003.12:g.186843673_186843676del, NC_000003.12:g.186843674_186843676del, NC_000003.12:g.186843675_186843676del, NC_000003.12:g.186843676del, NC_000003.12:g.186843676dup, NC_000003.12:g.186843675_186843676dup, NC_000003.12:g.186843674_186843676dup, NC_000003.12:g.186843669_186843676dup, NC_000003.11:g.186561460_186561465del, NC_000003.11:g.186561462_186561465del, NC_000003.11:g.186561463_186561465del, NC_000003.11:g.186561464_186561465del, NC_000003.11:g.186561465del, NC_000003.11:g.186561465dup, NC_000003.11:g.186561464_186561465dup, NC_000003.11:g.186561463_186561465dup, NC_000003.11:g.186561458_186561465dup, NG_021140.1:g.5998_6003del, NG_021140.1:g.6000_6003del, NG_021140.1:g.6001_6003del, NG_021140.1:g.6002_6003del, NG_021140.1:g.6003del, NG_021140.1:g.6003dup, NG_021140.1:g.6002_6003dup, NG_021140.1:g.6001_6003dup, NG_021140.1:g.5996_6003dup, NG_044949.1:g.3762_3767del, NG_044949.1:g.3764_3767del, NG_044949.1:g.3765_3767del, NG_044949.1:g.3766_3767del, NG_044949.1:g.3767del, NG_044949.1:g.3767dup, NG_044949.1:g.3766_3767dup, NG_044949.1:g.3765_3767dup, NG_044949.1:g.3760_3767dup
      3.

      rs1490741879 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        3:186853525 (GRCh38)
        3:186571314 (GRCh37)
        Canonical SPDI:
        NC_000003.12:186853524:C:G,NC_000003.12:186853524:C:T
        Gene:
        ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000023/6 (TOPMED)
        G=0.000029/4 (GnomAD)
        T=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1490150573 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:186857939 (GRCh38)
          3:186575728 (GRCh37)
          Canonical SPDI:
          NC_000003.12:186857938:C:T
          Gene:
          ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490025619 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:186842338 (GRCh38)
            3:186560127 (GRCh37)
            Canonical SPDI:
            NC_000003.12:186842337:C:T
            Gene:
            ADIPOQ (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489971829 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              3:186849050 (GRCh38)
              3:186566839 (GRCh37)
              Canonical SPDI:
              NC_000003.12:186849049:G:A,NC_000003.12:186849049:G:T
              Gene:
              ADIPOQ (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1489850356 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                3:186846917 (GRCh38)
                3:186564706 (GRCh37)
                Canonical SPDI:
                NC_000003.12:186846916:A:T
                Gene:
                ADIPOQ (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:
                8.

                rs1489757708 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:186850074 (GRCh38)
                  3:186567863 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:186850073:G:A
                  Gene:
                  ADIPOQ (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1489683309 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:186848860 (GRCh38)
                    3:186566649 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:186848859:A:G
                    Gene:
                    ADIPOQ (Varview)
                    Functional Consequence:
                    intron_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:
                    10.

                    rs1489629365 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:186849047 (GRCh38)
                      3:186566836 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:186849046:A:G
                      Gene:
                      ADIPOQ (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489581592 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:186845616 (GRCh38)
                        3:186563405 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:186845615:C:T
                        Gene:
                        ADIPOQ (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.00015/21 (GnomAD)
                        T=0.001667/1 (NorthernSweden)
                        HGVS:
                        12.

                        rs1489569317 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:186857365 (GRCh38)
                          3:186575154 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:186857364:A:G
                          Gene:
                          ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1489516460 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:186858326 (GRCh38)
                            3:186576115 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:186858325:A:G
                            Gene:
                            ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000142/2 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1489443874 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              3:186848802 (GRCh38)
                              3:186566591 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:186848801:A:C
                              Gene:
                              ADIPOQ (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489390608 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:186846524 (GRCh38)
                                3:186564313 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:186846523:G:A,NC_000003.12:186846523:G:T
                                Gene:
                                ADIPOQ (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.00004/1 (TOMMO)
                                HGVS:
                                16.

                                rs1489378891 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  3:186841708 (GRCh38)
                                  3:186559497 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:186841707:T:G
                                  Gene:
                                  ADIPOQ (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489168010 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    3:186849595 (GRCh38)
                                    3:186567384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:186849594:A:C,NC_000003.12:186849594:A:T
                                    Gene:
                                    ADIPOQ (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)
                                    C=0.000071/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1488878703 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      3:186855358 (GRCh38)
                                      3:186573147 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:186855357:C:A
                                      Gene:
                                      ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488591098 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:186857883 (GRCh38)
                                        3:186575672 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:186857882:C:T
                                        Gene:
                                        ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488538738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:186858851 (GRCh38)
                                          3:186576640 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:186858850:A:G
                                          Gene:
                                          ADIPOQ (Varview), ADIPOQ-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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