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Links from Nucleotide

Items: 1 to 20 of 207

1.

rs1484183078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    14:73787493 (GRCh38)
    14:74254196 (GRCh37)
    Canonical SPDI:
    NC_000014.9:73787492:C:A,NC_000014.9:73787492:C:G
    Gene:
    MIDEAS (Varview), MIDEAS-AS1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1480616758 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      14:73803447 (GRCh38)
      14:74270150 (GRCh37)
      Canonical SPDI:
      NC_000014.9:73803446:C:G,NC_000014.9:73803446:C:T
      Gene:
      MIDEAS-AS1 (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)
      T=0.000248/4 (TOMMO)
      HGVS:
      3.

      rs1474440810 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:73803086 (GRCh38)
        14:74269789 (GRCh37)
        Canonical SPDI:
        NC_000014.9:73803085:A:G
        Gene:
        MIDEAS-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000019/5 (TOPMED)
        G=0.000029/4 (GnomAD)
        G=0.000342/1 (KOREAN)
        G=0.004762/1 (Vietnamese)
        HGVS:
        4.

        rs1463211260 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:73789062 (GRCh38)
          14:74255765 (GRCh37)
          Canonical SPDI:
          NC_000014.9:73789061:G:A
          Gene:
          MIDEAS (Varview), MIDEAS-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1460129498 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            14:73803329 (GRCh38)
            14:74270032 (GRCh37)
            Canonical SPDI:
            NC_000014.9:73803328:G:A,NC_000014.9:73803328:G:T
            Gene:
            MIDEAS-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1452994436 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:73802938 (GRCh38)
              14:74269641 (GRCh37)
              Canonical SPDI:
              NC_000014.9:73802937:T:C
              Gene:
              MIDEAS-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1452182356 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                14:73803094 (GRCh38)
                14:74269797 (GRCh37)
                Canonical SPDI:
                NC_000014.9:73803093:T:C,NC_000014.9:73803093:T:G
                Gene:
                MIDEAS-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                T=0.5/1 (SGDP_PRJ)
                HGVS:
                8.

                rs1449139110 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  14:73803437 (GRCh38)
                  14:74270140 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:73803436:C:G
                  Gene:
                  MIDEAS-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1448873837 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:73803278 (GRCh38)
                    14:74269981 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:73803277:T:C
                    Gene:
                    MIDEAS-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1448673572 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      14:73802907 (GRCh38)
                      14:74269610 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:73802906:A:T
                      Gene:
                      MIDEAS-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_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:
                      11.

                      rs1447395029 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        14:73789092 (GRCh38)
                        14:74255795 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:73789091:C:A,NC_000014.9:73789091:C:T
                        Gene:
                        MIDEAS (Varview), MIDEAS-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1441480140 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          14:73787407 (GRCh38)
                          14:74254110 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:73787406:C:A
                          Gene:
                          MIDEAS (Varview), MIDEAS-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1436370269 has merged into rs979198997 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AGC>-,AGCAGCAGC [Show Flanks]
                            Chromosome:
                            14:73802963 (GRCh38)
                            14:74269666 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:73802950:AGCAGCAGCAGCAGC:AGCAGCAGCAGC,NC_000014.9:73802950:AGCAGCAGCAGCAGC:AGCAGCAGCAGCAGCAGCAGC
                            Gene:
                            MIDEAS-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGCAGCAGCAGCAGCAGCAGC=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1435673615 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->ACATTGA [Show Flanks]
                              Chromosome:
                              14:73803116 (GRCh38)
                              14:74269820 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:73803116:A:AACATTGA
                              Gene:
                              MIDEAS-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AACATTGA=0./0 (ALFA)
                              AACATTG=0.000008/2 (TOPMED)
                              AACATTG=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1429661954 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ACAAAAAT>- [Show Flanks]
                                Chromosome:
                                14:73803454 (GRCh38)
                                14:74270157 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:73803446:CAAAAATACAAAAAT:CAAAAAT
                                Gene:
                                MIDEAS-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAAAAAT=0./0 (ALFA)
                                -=0.000022/3 (GnomAD)
                                -=0.000053/14 (TOPMED)
                                HGVS:
                                16.

                                rs1427976696 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  14:73803222 (GRCh38)
                                  14:74269925 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:73803221:C:G
                                  Gene:
                                  MIDEAS-AS1 (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:
                                  17.

                                  rs1427645329 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    14:73803150 (GRCh38)
                                    14:74269853 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:73803149:A:C,NC_000014.9:73803149:A:G
                                    Gene:
                                    MIDEAS-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0./0 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1425767782 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:73803585 (GRCh38)
                                      14:74270288 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:73803584:G:A
                                      Gene:
                                      MIDEAS-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1420109945 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        14:73803105 (GRCh38)
                                        14:74269808 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:73803104:G:A,NC_000014.9:73803104:G:C
                                        Gene:
                                        MIDEAS-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1417659605 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          14:73789090 (GRCh38)
                                          14:74255793 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:73789089:CCCCC:CCCC
                                          Gene:
                                          MIDEAS (Varview), MIDEAS-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCCC=0./0 (ALFA)
                                          -=0.000011/3 (TOPMED)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

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