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Items: 1 to 20 of 4595

1.

rs1491450670 has merged into rs71366495 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATTATTATTATTATT>-,ATT,ATTATT,ATTATTATT,ATTATTATTATT,ATTATTATTATTATTATT,ATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATT [Show Flanks]
    Chromosome:
    17:35997177 (GRCh38)
    17:34324213 (GRCh37)
    Canonical SPDI:
    NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000017.11:35997162:TTATTATTATTATTATTATTATTATTATT:TTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT
    Gene:
    CCL15 (Varview), CCL15-CCL14 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTATTATTATTATTATT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.104826/404 (ALSPAC)
    TTA=0.181446/133 (1000Genomes)
    HGVS:
    NC_000017.11:g.35997165ATT[4], NC_000017.11:g.35997165ATT[5], NC_000017.11:g.35997165ATT[6], NC_000017.11:g.35997165ATT[7], NC_000017.11:g.35997165ATT[8], NC_000017.11:g.35997165ATT[10], NC_000017.11:g.35997165ATT[11], NC_000017.11:g.35997165ATT[12], NC_000017.11:g.35997165ATT[13], NC_000017.11:g.35997165ATT[14], NC_000017.11:g.35997165ATT[15], NT_187614.1:g.231729ATT[4], NT_187614.1:g.231729ATT[5], NT_187614.1:g.231729ATT[6], NT_187614.1:g.231729ATT[7], NT_187614.1:g.231729ATT[8], NT_187614.1:g.231729ATT[10], NT_187614.1:g.231729ATT[11], NT_187614.1:g.231729ATT[12], NT_187614.1:g.231729ATT[13], NT_187614.1:g.231729ATT[14], NT_187614.1:g.231729ATT[15], NC_000017.10:g.34324201ATT[4], NC_000017.10:g.34324201ATT[5], NC_000017.10:g.34324201ATT[6], NC_000017.10:g.34324201ATT[7], NC_000017.10:g.34324201ATT[8], NC_000017.10:g.34324201ATT[10], NC_000017.10:g.34324201ATT[11], NC_000017.10:g.34324201ATT[12], NC_000017.10:g.34324201ATT[13], NC_000017.10:g.34324201ATT[14], NC_000017.10:g.34324201ATT[15]
    2.

    rs1491207848 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:36000462 (GRCh38)
      17:34327501 (GRCh37)
      Canonical SPDI:
      NC_000017.11:36000461:CA:
      Gene:
      CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491060642 has merged into rs775816471 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>-,GAGA [Show Flanks]
        Chromosome:
        17:36003539 (GRCh38)
        17:34330582 (GRCh37)
        Canonical SPDI:
        NC_000017.11:36003536:GAGA:GA,NC_000017.11:36003536:GAGA:GAGAGA
        Gene:
        CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GAGAGA=0./0 (ALFA)
        -=0.00055/1 (Korea1K)
        -=0.12298/456 (TWINSUK)
        -=0.1287/496 (ALSPAC)
        HGVS:
        4.

        rs1490882581 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:35999411 (GRCh38)
          17:34326447 (GRCh37)
          Canonical SPDI:
          NC_000017.11:35999410:A:G
          Gene:
          CCL15 (Varview), CCL15-CCL14 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000066/1 (ALFA)
          G=0.000021/3 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1490848997 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:35986104 (GRCh38)
            17:34313140 (GRCh37)
            Canonical SPDI:
            NC_000017.11:35986103:G:A
            Gene:
            CCL14 (Varview), CCL15-CCL14 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490785728 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:36002360 (GRCh38)
              17:34329406 (GRCh37)
              Canonical SPDI:
              NC_000017.11:36002359:T:C
              Gene:
              CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490769960 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:36003435 (GRCh38)
                17:34330480 (GRCh37)
                Canonical SPDI:
                NC_000017.11:36003434:G:A
                Gene:
                CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490608561 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:36001839 (GRCh38)
                  17:34328885 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:36001838:G:A
                  Gene:
                  CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490470080 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:36000481 (GRCh38)
                    17:34327520 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:36000480:A:G
                    Gene:
                    CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000029/4 (GnomAD)
                    G=0.000053/14 (TOPMED)
                    HGVS:
                    10.

                    rs1490417315 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:35998533 (GRCh38)
                      17:34325569 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:35998532:C:T
                      Gene:
                      CCL15 (Varview), CCL15-CCL14 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490341884 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        17:35984185 (GRCh38)
                        17:34311221 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:35984184:A:C
                        Gene:
                        CCL14 (Varview), CCL15-CCL14 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490143952 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:36002603 (GRCh38)
                          17:34329649 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:36002602:T:C
                          Gene:
                          CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000162/3 (ALFA)
                          C=0.000029/4 (GnomAD)
                          C=0.000446/2 (Estonian)
                          HGVS:
                          13.

                          rs1490067898 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            17:36000339 (GRCh38)
                            17:34327378 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:36000338:C:G
                            Gene:
                            CCL15 (Varview), CCL15-CCL14 (Varview), LOC107985068 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490009490 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:35995858 (GRCh38)
                              17:34322894 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:35995857:G:A
                              Gene:
                              CCL15-CCL14 (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:
                              15.

                              rs1489527330 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                17:35997217 (GRCh38)
                                17:34324253 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:35997216:C:A
                                Gene:
                                CCL15 (Varview), CCL15-CCL14 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489169412 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  17:35992115 (GRCh38)
                                  17:34319151 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:35992114:G:C
                                  Gene:
                                  CCL15-CCL14 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489152239 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:35984414 (GRCh38)
                                    17:34311450 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:35984413:T:C
                                    Gene:
                                    CCL14 (Varview), CCL15-CCL14 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489072224 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:35996179 (GRCh38)
                                      17:34323215 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:35996178:C:T
                                      Gene:
                                      CCL15-CCL14 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000108/2 (ALFA)
                                      T=0.000026/7 (TOPMED)
                                      T=0.000036/5 (GnomAD)
                                      T=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1488960086 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:35993743 (GRCh38)
                                        17:34320779 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:35993742:C:T
                                        Gene:
                                        CCL15-CCL14 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488309303 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:35984691 (GRCh38)
                                          17:34311727 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:35984690:G:C
                                          Gene:
                                          CCL14 (Varview), CCL15-CCL14 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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