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Items: 1 to 20 of 3685

2.

rs1491223506 has merged into rs11475954 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA [Show Flanks]
    Chromosome:
    20:14324301 (GRCh38)
    20:14304947 (GRCh37)
    Canonical SPDI:
    NC_000020.11:14324290:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:14324290:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:14324290:AAAAAAAAAAAA:AAAAAAAAAAAAA
    Gene:
    FLRT3 (Varview), MACROD2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    A=0.07395/285 (ALSPAC)
    A=0.07551/280 (TWINSUK)
    A=0.09/54 (NorthernSweden)
    A=0.125/5 (GENOME_DK)
    A=0.16034/803 (1000Genomes)
    A=0.25005/4191 (TOMMO)
    A=0.30513/559 (Korea1K)
    HGVS:
    NC_000020.11:g.14324301_14324302del, NC_000020.11:g.14324302del, NC_000020.11:g.14324302dup, NC_000020.10:g.14304947_14304948del, NC_000020.10:g.14304948del, NC_000020.10:g.14304948dup, NG_054905.1:g.333802_333803del, NG_054905.1:g.333803del, NG_054905.1:g.333803dup, NG_033913.1:g.18376_18377del, NG_033913.1:g.18377del, NG_033913.1:g.18377dup, NM_013281.4:c.*1265_*1266del, NM_013281.4:c.*1266del, NM_013281.4:c.*1266dup, NM_013281.3:c.*1265_*1266del, NM_013281.3:c.*1266del, NM_013281.3:c.*1266dup, NM_198391.3:c.*1265_*1266del, NM_198391.3:c.*1266del, NM_198391.3:c.*1266dup, NM_198391.2:c.*1265_*1266del, NM_198391.2:c.*1266del, NM_198391.2:c.*1266dup, XM_005260682.5:c.*1265_*1266del, XM_005260682.5:c.*1266del, XM_005260682.5:c.*1266dup, XM_005260682.4:c.*1265_*1266del, XM_005260682.4:c.*1266del, XM_005260682.4:c.*1266dup, XM_005260682.3:c.*1265_*1266del, XM_005260682.3:c.*1266del, XM_005260682.3:c.*1266dup, XM_005260682.2:c.*1265_*1266del, XM_005260682.2:c.*1266del, XM_005260682.2:c.*1266dup, XM_005260682.1:c.*1265_*1266del, XM_005260682.1:c.*1266del, XM_005260682.1:c.*1266dup, XM_011529204.3:c.*1265_*1266del, XM_011529204.3:c.*1266del, XM_011529204.3:c.*1266dup, XM_011529204.2:c.*1265_*1266del, XM_011529204.2:c.*1266del, XM_011529204.2:c.*1266dup, XM_011529204.1:c.*1265_*1266del, XM_011529204.1:c.*1266del, XM_011529204.1:c.*1266dup, XM_011529205.3:c.*1265_*1266del, XM_011529205.3:c.*1266del, XM_011529205.3:c.*1266dup, XM_011529205.2:c.*1265_*1266del, XM_011529205.2:c.*1266del, XM_011529205.2:c.*1266dup, XM_011529205.1:c.*1265_*1266del, XM_011529205.1:c.*1266del, XM_011529205.1:c.*1266dup
    3.

    rs1491017038 has merged into rs11087087 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
      Chromosome:
      20:14334805 (GRCh38)
      20:14315451 (GRCh37)
      Canonical SPDI:
      NC_000020.11:14334795:TTTTTTTTTTT:TTTTTTTTT,NC_000020.11:14334795:TTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:14334795:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:14334795:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:14334795:TTTTTTTTTTT:TTTTTTTTTTTTTT
      Gene:
      FLRT3 (Varview), MACROD2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTT=0./0 (ALFA)
      -=0.3313/1596 (1000Genomes)
      T=0.4655/1794 (ALSPAC)
      T=0.4663/1729 (TWINSUK)
      T=0.5/20 (GENOME_DK)
      HGVS:
      4.

      rs1490976715 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        C>- [Show Flanks]
        Chromosome:
        20:14333927 (GRCh38)
        20:14314573 (GRCh37)
        Canonical SPDI:
        NC_000020.11:14333926:CC:C
        Gene:
        FLRT3 (Varview), MACROD2 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CC=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        5.

        rs1490800432 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:14338359 (GRCh38)
          20:14319005 (GRCh37)
          Canonical SPDI:
          NC_000020.11:14338358:C:T
          Gene:
          FLRT3 (Varview), MACROD2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency
          MAF:
          T=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1490761487 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:14325094 (GRCh38)
            20:14305740 (GRCh37)
            Canonical SPDI:
            NC_000020.11:14325093:C:T
            Gene:
            FLRT3 (Varview), MACROD2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            HGVS:
            7.

            rs1490513733 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              20:14335508 (GRCh38)
              20:14316154 (GRCh37)
              Canonical SPDI:
              NC_000020.11:14335507:G:A,NC_000020.11:14335507:G:C
              Gene:
              FLRT3 (Varview), MACROD2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000015/4 (TOPMED)
              HGVS:
              8.

              rs1490487014 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                20:14334322 (GRCh38)
                20:14314968 (GRCh37)
                Canonical SPDI:
                NC_000020.11:14334321:TTTT:TTT
                Gene:
                FLRT3 (Varview), MACROD2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTT=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000008/2 (TOPMED)
                HGVS:
                11.

                rs1489637810 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  20:14336254 (GRCh38)
                  20:14316900 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:14336253:C:G
                  Gene:
                  FLRT3 (Varview), MACROD2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  12.

                  rs1489618243 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    20:14329117 (GRCh38)
                    20:14309763 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:14329116:T:A
                    Gene:
                    FLRT3 (Varview), MACROD2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    13.

                    rs1489501380 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      20:14322986 (GRCh38)
                      20:14303633 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:14322986:AAA:AAAA
                      Gene:
                      FLRT3 (Varview), MACROD2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAA=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      14.

                      rs1489264239 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        20:14336536 (GRCh38)
                        20:14317182 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:14336535:A:T
                        Gene:
                        FLRT3 (Varview), MACROD2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,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:
                        15.

                        rs1489115338 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          20:14337484 (GRCh38)
                          20:14318130 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:14337483:C:G
                          Gene:
                          FLRT3 (Varview), MACROD2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          16.

                          rs1489039474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:14335315 (GRCh38)
                            20:14315961 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:14335314:A:G
                            Gene:
                            FLRT3 (Varview), MACROD2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            17.

                            rs1488861106 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              20:14328511 (GRCh38)
                              20:14309157 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:14328510:C:G,NC_000020.11:14328510:C:T
                              Gene:
                              FLRT3 (Varview), MACROD2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              18.

                              rs1488760414 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                20:14329456 (GRCh38)
                                20:14310102 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:14329455:T:C
                                Gene:
                                FLRT3 (Varview), MACROD2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                19.

                                rs1488625211 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:14337496 (GRCh38)
                                  20:14318142 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:14337495:C:T
                                  Gene:
                                  FLRT3 (Varview), MACROD2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  20.

                                  rs1488580354 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:14325507 (GRCh38)
                                    20:14306153 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:14325506:C:T
                                    Gene:
                                    FLRT3 (Varview), MACROD2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:

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