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Links from Nucleotide

Items: 1 to 20 of 369

1.

rs1491461792 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:6239256 (GRCh38)
    1:6299316 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6239253:CACA:CA
    Gene:
    ICMT-DT (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    CACA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490286343 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:6237137 (GRCh38)
      1:6297197 (GRCh37)
      Canonical SPDI:
      NC_000001.11:6237136:G:A
      Gene:
      ICMT (Varview), ICMT-DT (Varview)
      Functional Consequence:
      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1488205981 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:6239223 (GRCh38)
        1:6299283 (GRCh37)
        Canonical SPDI:
        NC_000001.11:6239222:A:G
        Gene:
        ICMT-DT (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1484307123 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:6237298 (GRCh38)
          1:6297358 (GRCh37)
          Canonical SPDI:
          NC_000001.11:6237297:G:A
          Gene:
          ICMT (Varview), ICMT-DT (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1483580528 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:6238239 (GRCh38)
            1:6298299 (GRCh37)
            Canonical SPDI:
            NC_000001.11:6238238:G:A
            Gene:
            ICMT-DT (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1483208510 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:6239358 (GRCh38)
              1:6299418 (GRCh37)
              Canonical SPDI:
              NC_000001.11:6239357:C:G
              Gene:
              ICMT-DT (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              G=0.000156/1 (1000Genomes)
              G=0.000177/3 (TOMMO)
              G=0.000546/1 (Korea1K)
              G=0.001027/3 (KOREAN)
              HGVS:
              7.

              rs1482929846 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:6236280 (GRCh38)
                1:6296340 (GRCh37)
                Canonical SPDI:
                NC_000001.11:6236279:T:C
                Gene:
                ICMT (Varview), ICMT-DT (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000084/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1482800426 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:6239293 (GRCh38)
                  1:6299353 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:6239292:A:G
                  Gene:
                  ICMT-DT (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1482299043 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:6238646 (GRCh38)
                    1:6298706 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:6238645:A:G
                    Gene:
                    ICMT-DT (Varview)
                    Functional Consequence:
                    non_coding_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:
                    10.

                    rs1482209493 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:6238970 (GRCh38)
                      1:6299030 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:6238969:A:G
                      Gene:
                      ICMT-DT (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0./0 (GnomAD)
                      G=0.000004/1 (TOPMED)
                      G=0.001092/2 (Korea1K)
                      G=0.001369/4 (KOREAN)
                      G=0.00138/23 (TOMMO)
                      HGVS:
                      11.

                      rs1481176418 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:6238439 (GRCh38)
                        1:6298499 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:6238438:G:A
                        Gene:
                        ICMT-DT (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1480836765 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:6238430 (GRCh38)
                          1:6298490 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:6238429:G:A
                          Gene:
                          ICMT-DT (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1478717445 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            1:6239372 (GRCh38)
                            1:6299432 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:6239371:A:
                            Gene:
                            ICMT-DT (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1478344982 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:6236300 (GRCh38)
                              1:6296360 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:6236299:A:G
                              Gene:
                              ICMT (Varview), ICMT-DT (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1471804642 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:6236993 (GRCh38)
                                1:6297053 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:6236992:G:A
                                Gene:
                                ICMT (Varview), ICMT-DT (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000021/3 (GnomAD)
                                A=0.000045/12 (TOPMED)
                                HGVS:
                                16.

                                rs1467223627 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:6237333 (GRCh38)
                                  1:6297393 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:6237332:A:G
                                  Gene:
                                  ICMT (Varview), ICMT-DT (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1466528636 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:6238929 (GRCh38)
                                    1:6298989 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:6238928:C:T
                                    Gene:
                                    ICMT-DT (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1464871216 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:6239316 (GRCh38)
                                      1:6299376 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:6239315:C:T
                                      Gene:
                                      ICMT-DT (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1463436414 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:6239205 (GRCh38)
                                        1:6299265 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:6239204:G:A
                                        Gene:
                                        ICMT-DT (Varview)
                                        Functional Consequence:
                                        non_coding_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.

                                        rs1462107338 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:6238769 (GRCh38)
                                          1:6298829 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:6238768:C:G
                                          Gene:
                                          ICMT-DT (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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