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Links from Gene

Items: 1 to 20 of 486

1.

rs1487097568 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:130876285 (GRCh38)
    7:130561044 (GRCh37)
    Canonical SPDI:
    NC_000007.14:130876284:C:T
    Gene:
    MIR29A (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000014/2 (GnomAD)
    T=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1486992978 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:130877353 (GRCh38)
      7:130562112 (GRCh37)
      Canonical SPDI:
      NC_000007.14:130877352:G:A
      Gene:
      LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_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:
      3.

      rs1486791960 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:130877578 (GRCh38)
        7:130562337 (GRCh37)
        Canonical SPDI:
        NC_000007.14:130877577:T:C
        Gene:
        LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_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:
        4.

        rs1486541146 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          7:130876313 (GRCh38)
          7:130561072 (GRCh37)
          Canonical SPDI:
          NC_000007.14:130876312:T:A,NC_000007.14:130876312:T:C
          Gene:
          MIR29A (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000021/3 (GnomAD)
          A=0.000156/1 (1000Genomes)
          HGVS:
          5.

          rs1484834856 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:130878529 (GRCh38)
            7:130563288 (GRCh37)
            Canonical SPDI:
            NC_000007.14:130878528:C:T
            Gene:
            LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1476660899 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:130876419 (GRCh38)
              7:130561178 (GRCh37)
              Canonical SPDI:
              NC_000007.14:130876418:C:T
              Gene:
              MIR29A (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00007/1 (ALFA)
              HGVS:
              7.

              rs1476556809 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:130877542 (GRCh38)
                7:130562301 (GRCh37)
                Canonical SPDI:
                NC_000007.14:130877541:G:A
                Gene:
                LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1475682669 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAG>- [Show Flanks]
                  Chromosome:
                  7:130876951 (GRCh38)
                  7:130561710 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:130876947:AAGAAG:AAG
                  Gene:
                  MIR29A (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAGAAG=0./0 (ALFA)
                  -=0.000078/11 (GnomAD)
                  -=0.000249/66 (TOPMED)
                  HGVS:
                  9.

                  rs1475581146 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:130878007 (GRCh38)
                    7:130562766 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:130878006:A:G
                    Gene:
                    LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1475062126 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:130877454 (GRCh38)
                      7:130562213 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:130877453:G:A
                      Gene:
                      LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_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:
                      11.

                      rs1474598022 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:130878488 (GRCh38)
                        7:130563247 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:130878487:C:T
                        Gene:
                        LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1470297953 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          7:130878372 (GRCh38)
                          7:130563131 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:130878371:T:G
                          Gene:
                          LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1469440440 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:130877909 (GRCh38)
                            7:130562668 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:130877908:G:A
                            Gene:
                            LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1468756597 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              7:130877716 (GRCh38)
                              7:130562475 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:130877715:C:A
                              Gene:
                              LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1468019751 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:130878433 (GRCh38)
                                7:130563192 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:130878432:G:A
                                Gene:
                                LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1466137506 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:130878636 (GRCh38)
                                  7:130563395 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:130878635:A:G
                                  Gene:
                                  LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_downstream_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.

                                  rs1464415773 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    7:130876523 (GRCh38)
                                    7:130561282 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:130876522:T:A
                                    Gene:
                                    MIR29A (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1463719141 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:130877679 (GRCh38)
                                      7:130562438 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:130877678:C:T
                                      Gene:
                                      LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1463192925 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->AATA [Show Flanks]
                                        Chromosome:
                                        7:130876552 (GRCh38)
                                        7:130561312 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:130876552:AATA:AATAAATA
                                        Gene:
                                        MIR29A (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AATAAATA=0./0 (ALFA)
                                        AATA=0.000029/4 (GnomAD)
                                        AATA=0.00006/16 (TOPMED)
                                        AATA=0.000546/1 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1463086186 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:130877812 (GRCh38)
                                          7:130562571 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:130877811:T:C
                                          Gene:
                                          LINC-PINT (Varview), MIR29A (Varview), MIR29B1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000026/7 (TOPMED)
                                          HGVS:

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