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Links from Nucleotide

Items: 1 to 20 of 36

1.

rs1437940946 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:101023393 (GRCh38)
    14:101489730 (GRCh37)
    Canonical SPDI:
    NC_000014.9:101023392:A:G
    Gene:
    MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1395291487 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      14:101023339 (GRCh38)
      14:101489676 (GRCh37)
      Canonical SPDI:
      NC_000014.9:101023338:A:G
      Gene:
      MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
      Functional Consequence:
      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1361369657 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        14:101023352 (GRCh38)
        14:101489690 (GRCh37)
        Canonical SPDI:
        NC_000014.9:101023352:A:AA
        Gene:
        MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
        Functional Consequence:
        2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1353902015 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:101023380 (GRCh38)
          14:101489717 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101023379:A:G
          Gene:
          MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
          Functional Consequence:
          2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1350432733 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            14:101023338 (GRCh38)
            14:101489675 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101023337:G:C
            Gene:
            MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
            Functional Consequence:
            2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1285882332 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:101023382 (GRCh38)
              14:101489719 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101023381:C:A
              Gene:
              MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1281489195 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTT [Show Flanks]
                Chromosome:
                14:101023329 (GRCh38)
                14:101489667 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101023329:CTT:CTTCTT
                Gene:
                MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                HGVS:
                8.

                rs1254012177 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  14:101023328 (GRCh38)
                  14:101489665 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101023327:T:C
                  Gene:
                  MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1165649618 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:101023341 (GRCh38)
                    14:101489678 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101023340:A:G
                    Gene:
                    MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1157612570 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      14:101023345 (GRCh38)
                      14:101489682 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101023344:G:C
                      Gene:
                      MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs780559779 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:101023359 (GRCh38)
                        14:101489696 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101023358:C:T
                        Gene:
                        MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000028/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        T=0.000028/7 (GnomAD_exomes)
                        T=0.000033/4 (ExAC)
                        HGVS:
                        12.

                        rs772106334 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          14:101023390 (GRCh38)
                          14:101489727 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101023389:A:T
                          Gene:
                          MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000017/2 (ExAC)
                          HGVS:
                          13.

                          rs768285443 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:101023374 (GRCh38)
                            14:101489711 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101023373:G:A
                            Gene:
                            MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            A=0.000008/1 (ExAC)
                            HGVS:
                            14.

                            rs765492035 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:101023331 (GRCh38)
                              14:101489668 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101023330:T:C
                              Gene:
                              MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000008/1 (ExAC)
                              HGVS:
                              15.

                              rs765335933 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                14:101023399 (GRCh38)
                                14:101489736 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101023398:C:A,NC_000014.9:101023398:C:T
                                Gene:
                                MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/1 (ExAC)
                                HGVS:
                                16.

                                rs764544909 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:101023354 (GRCh38)
                                  14:101489691 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101023353:G:A
                                  Gene:
                                  MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000008/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs764296171 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:101023416 (GRCh38)
                                    14:101489753 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101023415:C:T
                                    Gene:
                                    MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000031/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/1 (ExAC)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs763178455 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      14:101023415 (GRCh38)
                                      14:101489752 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101023414:C:A,NC_000014.9:101023414:C:T
                                      Gene:
                                      MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      T=0.000008/1 (ExAC)
                                      A=0.000071/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs759656399 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        14:101023395 (GRCh38)
                                        14:101489732 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101023394:C:A
                                        Gene:
                                        MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000008/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs758726179 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:101023349 (GRCh38)
                                          14:101489686 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101023348:G:A
                                          Gene:
                                          MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000012/3 (GnomAD_exomes)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000015/4 (TOPMED)
                                          A=0.000017/2 (ExAC)
                                          HGVS:

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