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Links from Nucleotide

Items: 1 to 20 of 180

1.

rs1490669645 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:80178125 (GRCh38)
    18:77936008 (GRCh37)
    Canonical SPDI:
    NC_000018.10:80178124:G:A
    Gene:
    PARD6G (Varview), PARD6G-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1486852241 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      18:80148019 (GRCh38)
      18:77905903 (GRCh37)
      Canonical SPDI:
      NC_000018.10:80148019:AAA:AAAA
      Gene:
      PARD6G-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1484243108 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:80178366 (GRCh38)
        18:77936249 (GRCh37)
        Canonical SPDI:
        NC_000018.10:80178365:C:T
        Gene:
        PARD6G (Varview), PARD6G-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1481239227 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          18:80178217 (GRCh38)
          18:77936100 (GRCh37)
          Canonical SPDI:
          NC_000018.10:80178216:A:C
          Gene:
          PARD6G (Varview), PARD6G-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_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:
          5.

          rs1480955824 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            18:80178364 (GRCh38)
            18:77936247 (GRCh37)
            Canonical SPDI:
            NC_000018.10:80178363:A:G
            Gene:
            PARD6G (Varview), PARD6G-AS1 (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=0.000026/7 (TOPMED)
            G=0.000057/8 (GnomAD)
            HGVS:
            6.

            rs1478335729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:80148124 (GRCh38)
              18:77906007 (GRCh37)
              Canonical SPDI:
              NC_000018.10:80148123:C:T
              Gene:
              PARD6G-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.00011/2 (GnomAD_exomes)
              HGVS:
              7.

              rs1478289141 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                18:80147934 (GRCh38)
                18:77905817 (GRCh37)
                Canonical SPDI:
                NC_000018.10:80147933:C:T
                Gene:
                PARD6G-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                T=0.00046/8 (TOMMO)
                HGVS:
                8.

                rs1477433673 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  18:80175918 (GRCh38)
                  18:77933801 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:80175917:G:C
                  Gene:
                  PARD6G (Varview), PARD6G-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1470665055 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:80178333 (GRCh38)
                    18:77936216 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:80178332:G:A
                    Gene:
                    PARD6G (Varview), PARD6G-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,non_coding_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:
                    10.

                    rs1470474649 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      18:80147930 (GRCh38)
                      18:77905813 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:80147929:A:C
                      Gene:
                      PARD6G-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1463963294 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        18:80178353 (GRCh38)
                        18:77936236 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:80178352:G:A
                        Gene:
                        PARD6G (Varview), PARD6G-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,non_coding_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:
                        12.

                        rs1459913027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          18:80148155 (GRCh38)
                          18:77906038 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:80148154:A:G
                          Gene:
                          PARD6G-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          HGVS:
                          13.

                          rs1459285155 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            18:80148138 (GRCh38)
                            18:77906021 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:80148137:G:A
                            Gene:
                            PARD6G-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1458672372 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              18:80148135 (GRCh38)
                              18:77906018 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:80148134:C:T
                              Gene:
                              PARD6G-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1455965272 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                18:80178404 (GRCh38)
                                18:77936287 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:80178403:C:A
                                Gene:
                                PARD6G (Varview), PARD6G-AS1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1450750802 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  18:80148079 (GRCh38)
                                  18:77905962 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:80148078:G:T
                                  Gene:
                                  PARD6G-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1441498957 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    18:80148212 (GRCh38)
                                    18:77906095 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:80148211:T:A
                                    Gene:
                                    PARD6G-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1432996875 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      18:80178344 (GRCh38)
                                      18:77936227 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:80178343:G:A
                                      Gene:
                                      PARD6G (Varview), PARD6G-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      A=0.002831/47 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1429145902 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        18:80147991 (GRCh38)
                                        18:77905874 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:80147990:T:C
                                        Gene:
                                        PARD6G-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0./0 (GnomAD)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1428866543 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          18:80147928 (GRCh38)
                                          18:77905811 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:80147927:C:G
                                          Gene:
                                          PARD6G-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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