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Links from Nucleotide

Items: 1 to 20 of 259

1.

rs1489782651 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    6:163052001 (GRCh38)
    6:163473033 (GRCh37)
    Canonical SPDI:
    NC_000006.12:163051997:TATAT:TAT
    Gene:
    PACRG (Varview), PACRG-AS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TAT=0./0 (ALFA)
    -=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489397969 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      6:163042990 (GRCh38)
      6:163464022 (GRCh37)
      Canonical SPDI:
      NC_000006.12:163042989:C:G
      Gene:
      PACRG (Varview), PACRG-AS2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1485288983 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:163052008 (GRCh38)
        6:163473040 (GRCh37)
        Canonical SPDI:
        NC_000006.12:163052007:G:A
        Gene:
        PACRG (Varview), PACRG-AS2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000594/11 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000114/16 (GnomAD)
        A=0.002455/11 (Estonian)
        HGVS:
        4.

        rs1483792770 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:163051281 (GRCh38)
          6:163472313 (GRCh37)
          Canonical SPDI:
          NC_000006.12:163051280:T:C
          Gene:
          PACRG (Varview), PACRG-AS2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1481959047 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->AG
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1481264048 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              6:163043024 (GRCh38)
              6:163464056 (GRCh37)
              Canonical SPDI:
              NC_000006.12:163043023:A:G,NC_000006.12:163043023:A:T
              Gene:
              PACRG (Varview), PACRG-AS2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1479874508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:163051844 (GRCh38)
                6:163472876 (GRCh37)
                Canonical SPDI:
                NC_000006.12:163051843:T:C
                Gene:
                PACRG (Varview), PACRG-AS2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000084/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1476541778 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:163054095 (GRCh38)
                  6:163475127 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:163054094:G:A
                  Gene:
                  PACRG (Varview), PACRG-AS2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1474568786 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:163051731 (GRCh38)
                    6:163472763 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:163051730:G:A
                    Gene:
                    PACRG (Varview), PACRG-AS2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1469008162 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:163051506 (GRCh38)
                      6:163472538 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:163051505:A:G
                      Gene:
                      PACRG (Varview), PACRG-AS2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1468780955 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        6:163046653 (GRCh38)
                        6:163467685 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:163046652:A:
                        Gene:
                        PACRG (Varview), PACRG-AS2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1468014235 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:163051458 (GRCh38)
                          6:163472490 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:163051457:T:C
                          Gene:
                          PACRG (Varview), PACRG-AS2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000026/7 (TOPMED)
                          HGVS:
                          13.

                          rs1466322934 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            6:163051476 (GRCh38)
                            6:163472508 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:163051475:T:G
                            Gene:
                            PACRG (Varview), PACRG-AS2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1459096607 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:163046629 (GRCh38)
                              6:163467661 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:163046628:T:C
                              Gene:
                              PACRG (Varview), PACRG-AS2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1455270138 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                6:163043124 (GRCh38)
                                6:163464156 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:163043123:G:A,NC_000006.12:163043123:G:C
                                Gene:
                                PACRG (Varview), PACRG-AS2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                C=0.000071/1 (TOMMO)
                                HGVS:
                                16.

                                rs1453874007 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:163043150 (GRCh38)
                                  6:163464182 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:163043149:T:C
                                  Gene:
                                  PACRG (Varview), PACRG-AS2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1453604807 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:163051601 (GRCh38)
                                    6:163472633 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:163051600:T:C
                                    Gene:
                                    PACRG (Varview), PACRG-AS2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1452002442 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      6:163051395 (GRCh38)
                                      6:163472427 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:163051394:G:A,NC_000006.12:163051394:G:C
                                      Gene:
                                      PACRG (Varview), PACRG-AS2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1439693788 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        6:163051422 (GRCh38)
                                        6:163472454 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:163051421:T:G
                                        Gene:
                                        PACRG (Varview), PACRG-AS2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1435208732 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:163043094 (GRCh38)
                                          6:163464126 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:163043093:A:G
                                          Gene:
                                          PACRG (Varview), PACRG-AS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000045/12 (TOPMED)
                                          G=0.00046/8 (TOMMO)
                                          G=0.002053/6 (KOREAN)
                                          G=0.002183/4 (Korea1K)
                                          HGVS:

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