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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1490566770 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    1:54653200 (GRCh38)
    1:55118873 (GRCh37)
    Canonical SPDI:
    NC_000001.11:54653199:G:C
    Gene:
    MROH7 (Varview), MROH7-TTC4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000085/3 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1490384705 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:54680027 (GRCh38)
      1:55145701 (GRCh37)
      Canonical SPDI:
      NC_000001.11:54680027:CCCCC:CCCCCC
      Gene:
      MROH7 (Varview), MROH7-TTC4 (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000008/2 (GnomAD_exomes)
      HGVS:
      3.
      4.

      rs1489853127 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:54728366 (GRCh38)
        1:55194039 (GRCh37)
        Canonical SPDI:
        NC_000001.11:54728365:G:C
        Gene:
        TTC4 (Varview), MROH7-TTC4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        5.

        rs1489032784 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:54680031 (GRCh38)
          1:55145704 (GRCh37)
          Canonical SPDI:
          NC_000001.11:54680030:C:T
          Gene:
          MROH7 (Varview), MROH7-TTC4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1488325562 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            1:54641875 (GRCh38)
            1:55107548 (GRCh37)
            Canonical SPDI:
            NC_000001.11:54641874:A:C
            Gene:
            MROH7 (Varview), MROH7-TTC4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            7.

            rs1487062335 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:54742525 (GRCh38)
              1:55208198 (GRCh37)
              Canonical SPDI:
              NC_000001.11:54742524:G:T
              Gene:
              TTC4 (Varview), MROH7-TTC4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              9.

              rs1486628626 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                1:54742434 (GRCh38)
                1:55208107 (GRCh37)
                Canonical SPDI:
                NC_000001.11:54742431:AGAG:AG
                Gene:
                TTC4 (Varview), MROH7-TTC4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                AGAG=0./0 (ALFA)
                -=0.000015/4 (TOPMED)
                HGVS:
                10.

                rs1485050256 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:54733695 (GRCh38)
                  1:55199368 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:54733694:C:A
                  Gene:
                  TTC4 (Varview), MROH7-TTC4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  11.

                  rs1484964400 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:54653910 (GRCh38)
                    1:55119583 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:54653909:T:C
                    Gene:
                    MROH7 (Varview), MROH7-TTC4 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000094/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    12.

                    rs1484475107 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:54673141 (GRCh38)
                      1:55138814 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:54673140:C:T
                      Gene:
                      MROH7 (Varview), MROH7-TTC4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      13.

                      rs1484449877 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        1:54653082 (GRCh38)
                        1:55118755 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:54653081:T:A
                        Gene:
                        MROH7 (Varview), MROH7-TTC4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        14.

                        rs1484363127 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          1:54674078 (GRCh38)
                          1:55139751 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:54674077:T:A
                          Gene:
                          MROH7 (Varview), MROH7-TTC4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000156/1 (1000Genomes)
                          HGVS:
                          15.

                          rs1484027929 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            1:54731604 (GRCh38)
                            1:55197277 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:54731603:G:A,NC_000001.11:54731603:G:C
                            Gene:
                            TTC4 (Varview), MROH7-TTC4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            16.

                            rs1483254678 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:54731548 (GRCh38)
                              1:55197221 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:54731547:A:G
                              Gene:
                              TTC4 (Varview), MROH7-TTC4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000008/2 (GnomAD_exomes)
                              G=0.000342/1 (KOREAN)
                              HGVS:
                              17.

                              rs1482778996 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                1:54653170 (GRCh38)
                                1:55118843 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:54653169:A:C
                                Gene:
                                MROH7 (Varview), MROH7-TTC4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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.

                                rs1481851764 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:54653797 (GRCh38)
                                  1:55119470 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:54653796:A:G
                                  Gene:
                                  MROH7 (Varview), MROH7-TTC4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  19.

                                  rs1481406008 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:54742288 (GRCh38)
                                    1:55207961 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:54742287:A:G
                                    Gene:
                                    TTC4 (Varview), MROH7-TTC4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000389/7 (TOMMO)
                                    G=0.001369/4 (KOREAN)
                                    HGVS:
                                    20.

                                    rs1481307616 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:54653659 (GRCh38)
                                      1:55119332 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:54653658:A:G
                                      Gene:
                                      MROH7 (Varview), MROH7-TTC4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

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