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Items: 1 to 20 of 1517

1.

rs1490671950 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:231188478 (GRCh38)
    1:231324224 (GRCh37)
    Canonical SPDI:
    NC_000001.11:231188477:G:A
    Gene:
    TRIM67-AS1 (Varview), TRIM67 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490577043 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:231185403 (GRCh38)
      1:231321149 (GRCh37)
      Canonical SPDI:
      NC_000001.11:231185402:C:A
      Gene:
      TRIM67-AS1 (Varview), TRIM67 (Varview)
      Functional Consequence:
      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:
      3.

      rs1490065779 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        1:231188220 (GRCh38)
        1:231323966 (GRCh37)
        Canonical SPDI:
        NC_000001.11:231188219:T:C,NC_000001.11:231188219:T:G
        Gene:
        TRIM67-AS1 (Varview), TRIM67 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489354395 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:231189203 (GRCh38)
          1:231324949 (GRCh37)
          Canonical SPDI:
          NC_000001.11:231189202:T:C
          Gene:
          TRIM67-AS1 (Varview), TRIM67 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489181627 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:231188962 (GRCh38)
            1:231324708 (GRCh37)
            Canonical SPDI:
            NC_000001.11:231188961:G:T
            Gene:
            TRIM67-AS1 (Varview), TRIM67 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489039551 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:231184361 (GRCh38)
              1:231320107 (GRCh37)
              Canonical SPDI:
              NC_000001.11:231184360:G:T
              Gene:
              TRIM67-AS1 (Varview), TRIM67 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1488712090 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:231183953 (GRCh38)
                1:231319699 (GRCh37)
                Canonical SPDI:
                NC_000001.11:231183952:T:G
                Gene:
                TRIM67-AS1 (Varview), TRIM67 (Varview)
                Functional Consequence:
                500B_downstream_variant,intron_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488324571 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:231185851 (GRCh38)
                  1:231321597 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:231185850:T:C
                  Gene:
                  TRIM67-AS1 (Varview), TRIM67 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1488274582 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:231184973 (GRCh38)
                    1:231320719 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:231184972:C:T
                    Gene:
                    TRIM67-AS1 (Varview), TRIM67 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487228641 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:231188573 (GRCh38)
                      1:231324319 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:231188572:C:T
                      Gene:
                      TRIM67-AS1 (Varview), TRIM67 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1486805220 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:231184821 (GRCh38)
                        1:231320567 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:231184820:G:A
                        Gene:
                        TRIM67-AS1 (Varview), TRIM67 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,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:
                        12.

                        rs1485992579 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:231186149 (GRCh38)
                          1:231321895 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:231186148:C:T
                          Gene:
                          TRIM67-AS1 (Varview), TRIM67 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1485822445 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:231184289 (GRCh38)
                            1:231320035 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:231184288:T:G
                            Gene:
                            TRIM67-AS1 (Varview), TRIM67 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1485494329 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:231183857 (GRCh38)
                              1:231319603 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:231183856:C:T
                              Gene:
                              TRIM67-AS1 (Varview), TRIM67 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,intron_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1483984620 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:231187749 (GRCh38)
                                1:231323495 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:231187748:G:A
                                Gene:
                                TRIM67-AS1 (Varview), TRIM67 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000019/5 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                A=0.000035/1 (TOMMO)
                                A=0.000342/1 (KOREAN)
                                A=0.000546/1 (Korea1K)
                                HGVS:
                                16.

                                rs1483382213 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  1:231187210 (GRCh38)
                                  1:231322956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:231187209:A:C
                                  Gene:
                                  TRIM67-AS1 (Varview), TRIM67 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000034/9 (TOPMED)
                                  C=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483306199 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    1:231186908 (GRCh38)
                                    1:231322654 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:231186907:G:A,NC_000001.11:231186907:G:C
                                    Gene:
                                    TRIM67-AS1 (Varview), TRIM67 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482919498 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:231185018 (GRCh38)
                                      1:231320764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:231185017:C:G,NC_000001.11:231185017:C:T
                                      Gene:
                                      TRIM67-AS1 (Varview), TRIM67 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      HGVS:
                                      19.

                                      rs1482861213 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:231188791 (GRCh38)
                                        1:231324537 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:231188790:G:A
                                        Gene:
                                        TRIM67-AS1 (Varview), TRIM67 (Varview)
                                        Functional Consequence:
                                        intron_variant,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:
                                        20.

                                        rs1482192712 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:231185810 (GRCh38)
                                          1:231321556 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:231185809:T:C
                                          Gene:
                                          TRIM67-AS1 (Varview), TRIM67 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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