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Items: 1 to 20 of 698

1.

rs1491348681 has merged into rs3060717 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
    Chromosome:
    5:140710393 (GRCh38)
    5:140089978 (GRCh37)
    Canonical SPDI:
    NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAAAAA
    Gene:
    VTRNA1-1 (Varview), LOC105378198 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.44/264 (NorthernSweden)
    -=0.4728/2368 (1000Genomes)
    HGVS:
    2.

    rs1491331372 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:140710385 (GRCh38)
      5:140089970 (GRCh37)
      Canonical SPDI:
      NC_000005.10:140710384:CA:
      Gene:
      VTRNA1-1 (Varview), LOC105378198 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1489263097 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:140710296 (GRCh38)
        5:140089881 (GRCh37)
        Canonical SPDI:
        NC_000005.10:140710295:A:G
        Gene:
        VTRNA1-1 (Varview), LOC105378198 (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:
        4.

        rs1487125598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          5:140710818 (GRCh38)
          5:140090403 (GRCh37)
          Canonical SPDI:
          NC_000005.10:140710817:G:A,NC_000005.10:140710817:G:C
          Gene:
          VTRNA1-1 (Varview), LOC105378198 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1486018755 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            5:140709562 (GRCh38)
            5:140089147 (GRCh37)
            Canonical SPDI:
            NC_000005.10:140709561:G:A,NC_000005.10:140709561:G:C
            Gene:
            VTRNA1-1 (Varview), LOC105378198 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            A=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1485126573 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              5:140710971 (GRCh38)
              5:140090556 (GRCh37)
              Canonical SPDI:
              NC_000005.10:140710970:G:A,NC_000005.10:140710970:G:C
              Gene:
              VTRNA1-1 (Varview), LOC105378198 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1484001364 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                5:140709849 (GRCh38)
                5:140089434 (GRCh37)
                Canonical SPDI:
                NC_000005.10:140709848:G:A,NC_000005.10:140709848:G:T
                Gene:
                VTRNA1-1 (Varview), LOC105378198 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.00007/2 (TOMMO)
                A=0.00103/3 (KOREAN)
                A=0.00109/2 (Korea1K)
                HGVS:
                8.

                rs1483678178 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:140709447 (GRCh38)
                  5:140089032 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:140709446:C:T
                  Gene:
                  VTRNA1-1 (Varview), LOC105378198 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1483184913 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    5:140709315 (GRCh38)
                    5:140088900 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:140709314:C:G
                    Gene:
                    VTRNA1-1 (Varview), LOC105378198 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (KOREAN)
                    G=0.000004/1 (TOPMED)
                    G=0.000546/1 (Korea1K)
                    HGVS:
                    10.

                    rs1482743186 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      5:140711614 (GRCh38)
                      5:140091199 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:140711613:A:
                      Gene:
                      VTRNA1-1 (Varview), LOC105378198 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1482403027 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        5:140710361 (GRCh38)
                        5:140089947 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:140710361:GG:GGG
                        Gene:
                        VTRNA1-1 (Varview), LOC105378198 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGG=0.00061/10 (ALFA)
                        G=0.00223/10 (Estonian)
                        HGVS:
                        12.

                        rs1482354206 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:140710622 (GRCh38)
                          5:140090207 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:140710621:C:T
                          Gene:
                          VTRNA1-1 (Varview), LOC105378198 (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:
                          13.

                          rs1482057287 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            5:140710527 (GRCh38)
                            5:140090112 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:140710526:C:A
                            Gene:
                            VTRNA1-1 (Varview), LOC105378198 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000043/6 (GnomAD)
                            A=0.000087/23 (TOPMED)
                            A=0.000156/1 (1000Genomes)
                            A=0.001168/20 (TOMMO)
                            A=0.002396/7 (KOREAN)
                            A=0.003275/6 (Korea1K)
                            HGVS:
                            14.

                            rs1480773021 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              5:140711057 (GRCh38)
                              5:140090642 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:140711056:G:C
                              Gene:
                              VTRNA1-1 (Varview), LOC105378198 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1478715901 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                5:140709662 (GRCh38)
                                5:140089247 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:140709661:C:G
                                Gene:
                                VTRNA1-1 (Varview), LOC105378198 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1478689830 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:140711613 (GRCh38)
                                  5:140091198 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:140711612:C:T
                                  Gene:
                                  VTRNA1-1 (Varview), LOC105378198 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477098430 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAG>- [Show Flanks]
                                    Chromosome:
                                    5:140711038 (GRCh38)
                                    5:140090623 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:140711035:AGAAG:AG
                                    Gene:
                                    VTRNA1-1 (Varview), LOC105378198 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AG=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1476590242 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      5:140711607 (GRCh38)
                                      5:140091192 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:140711606:T:G
                                      Gene:
                                      VTRNA1-1 (Varview), LOC105378198 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000015/4 (TOPMED)
                                      G=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1475647479 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        5:140709297 (GRCh38)
                                        5:140088882 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:140709296:A:C,NC_000005.10:140709296:A:G
                                        Gene:
                                        VTRNA1-1 (Varview), LOC105378198 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.00328/6 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1475467659 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          5:140710600 (GRCh38)
                                          5:140090185 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:140710599:G:C
                                          Gene:
                                          VTRNA1-1 (Varview), LOC105378198 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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