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Links from Gene

Items: 1 to 20 of 545

1.

rs1490674518 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:147346603 (GRCh38)
    4:148267755 (GRCh37)
    Canonical SPDI:
    NC_000004.12:147346602:A:G
    Gene:
    MIR548G (Varview)
    Functional Consequence:
    upstream_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)
    G=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1490648374 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:147345654 (GRCh38)
      4:148266806 (GRCh37)
      Canonical SPDI:
      NC_000004.12:147345653:G:A
      Gene:
      MIR548G (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490320624 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:147344500 (GRCh38)
        4:148265652 (GRCh37)
        Canonical SPDI:
        NC_000004.12:147344499:A:G
        Gene:
        MIR548G (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1488984900 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:147344339 (GRCh38)
          4:148265491 (GRCh37)
          Canonical SPDI:
          NC_000004.12:147344338:A:G
          Gene:
          MIR548G (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488650669 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:147345219 (GRCh38)
            4:148266371 (GRCh37)
            Canonical SPDI:
            NC_000004.12:147345218:T:C
            Gene:
            MIR548G (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency
            MAF:
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488350446 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:147346369 (GRCh38)
              4:148267521 (GRCh37)
              Canonical SPDI:
              NC_000004.12:147346368:T:C
              Gene:
              MIR548G (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486847386 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:147345230 (GRCh38)
                4:148266382 (GRCh37)
                Canonical SPDI:
                NC_000004.12:147345229:T:C
                Gene:
                MIR548G (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1486204487 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  4:147346365 (GRCh38)
                  4:148267517 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:147346364:A:C
                  Gene:
                  MIR548G (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1485549468 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:147345405 (GRCh38)
                    4:148266557 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:147345404:G:A
                    Gene:
                    MIR548G (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1482622765 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:147346159 (GRCh38)
                      4:148267311 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:147346158:T:C
                      Gene:
                      MIR548G (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1481835556 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:147346495 (GRCh38)
                        4:148267647 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:147346494:G:A
                        Gene:
                        MIR548G (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1480983137 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:147346707 (GRCh38)
                          4:148267859 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:147346706:T:C
                          Gene:
                          MIR548G (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1479398990 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:147346339 (GRCh38)
                            4:148267491 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:147346338:T:C
                            Gene:
                            MIR548G (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1479306315 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:147345222 (GRCh38)
                              4:148266374 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:147345221:A:G
                              Gene:
                              MIR548G (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1474751973 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                4:147345987 (GRCh38)
                                4:148267139 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:147345986:C:A,NC_000004.12:147345986:C:T
                                Gene:
                                MIR548G (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1470462971 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:147345861 (GRCh38)
                                  4:148267013 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:147345860:G:A
                                  Gene:
                                  MIR548G (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1464622889 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    4:147344596 (GRCh38)
                                    4:148265748 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:147344595:T:G
                                    Gene:
                                    MIR548G (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.00004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1463446072 has merged into rs61128539 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                      Chromosome:
                                      4:147346485 (GRCh38)
                                      4:148267637 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                      Gene:
                                      MIR548G (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                                      GTGTGTGTGTGTGT=0./0 (GENOME_DK)
                                      HGVS:
                                      NC_000004.12:g.147346465GT[10], NC_000004.12:g.147346465GT[11], NC_000004.12:g.147346465GT[12], NC_000004.12:g.147346465GT[13], NC_000004.12:g.147346465GT[14], NC_000004.12:g.147346465GT[15], NC_000004.12:g.147346465GT[16], NC_000004.12:g.147346465GT[17], NC_000004.12:g.147346465GT[18], NC_000004.12:g.147346465GT[19], NC_000004.12:g.147346465GT[20], NC_000004.12:g.147346465GT[21], NC_000004.12:g.147346465GT[22], NC_000004.12:g.147346465GT[23], NC_000004.12:g.147346465GT[25], NC_000004.12:g.147346465GT[26], NC_000004.12:g.147346465GT[27], NC_000004.12:g.147346465GT[28], NC_000004.12:g.147346465GT[30], NC_000004.11:g.148267617GT[10], NC_000004.11:g.148267617GT[11], NC_000004.11:g.148267617GT[12], NC_000004.11:g.148267617GT[13], NC_000004.11:g.148267617GT[14], NC_000004.11:g.148267617GT[15], NC_000004.11:g.148267617GT[16], NC_000004.11:g.148267617GT[17], NC_000004.11:g.148267617GT[18], NC_000004.11:g.148267617GT[19], NC_000004.11:g.148267617GT[20], NC_000004.11:g.148267617GT[21], NC_000004.11:g.148267617GT[22], NC_000004.11:g.148267617GT[23], NC_000004.11:g.148267617GT[25], NC_000004.11:g.148267617GT[26], NC_000004.11:g.148267617GT[27], NC_000004.11:g.148267617GT[28], NC_000004.11:g.148267617GT[30]
                                      19.

                                      rs1463282422 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:147345514 (GRCh38)
                                        4:148266666 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:147345513:A:G
                                        Gene:
                                        MIR548G (Varview)
                                        Functional Consequence:
                                        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:
                                        20.

                                        rs1459999647 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          4:147344211 (GRCh38)
                                          4:148265363 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:147344210:A:C
                                          Gene:
                                          MIR548G (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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