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Links from Nucleotide

Items: 1 to 20 of 217

1.

rs1487356752 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:66767786 (GRCh38)
    8:67680021 (GRCh37)
    Canonical SPDI:
    NC_000008.11:66767785:A:G
    Gene:
    SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1487272165 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      8:66767495 (GRCh38)
      8:67679730 (GRCh37)
      Canonical SPDI:
      NC_000008.11:66767494:A:G
      Gene:
      SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1486393309 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:66767363 (GRCh38)
        8:67679598 (GRCh37)
        Canonical SPDI:
        NC_000008.11:66767362:A:G
        Gene:
        SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1478352729 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          8:66767583 (GRCh38)
          8:67679818 (GRCh37)
          Canonical SPDI:
          NC_000008.11:66767582:C:G
          Gene:
          SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1476576858 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            8:66767811 (GRCh38)
            8:67680046 (GRCh37)
            Canonical SPDI:
            NC_000008.11:66767810:T:G
            Gene:
            SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1472489197 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:66767697 (GRCh38)
              8:67679932 (GRCh37)
              Canonical SPDI:
              NC_000008.11:66767696:A:G
              Gene:
              SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1470907177 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:66767982 (GRCh38)
                8:67680217 (GRCh37)
                Canonical SPDI:
                NC_000008.11:66767981:A:G
                Gene:
                SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                HGVS:
                8.

                rs1467399919 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  G>T
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1464369728 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:66767616 (GRCh38)
                    8:67679851 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:66767615:C:T
                    Gene:
                    SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1462976393 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      8:66767514 (GRCh38)
                      8:67679749 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:66767513:A:T
                      Gene:
                      SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1456827292 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        8:66767608 (GRCh38)
                        8:67679843 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:66767607:T:C
                        Gene:
                        SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_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:
                        12.

                        rs1446626619 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          8:66767752 (GRCh38)
                          8:67679987 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:66767751:T:A
                          Gene:
                          SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1445111707 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            8:66767539 (GRCh38)
                            8:67679774 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:66767538:T:C
                            Gene:
                            SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1441720418 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              8:66767776 (GRCh38)
                              8:67680011 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:66767775:G:T
                              Gene:
                              SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1438191251 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:66767678 (GRCh38)
                                8:67679913 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:66767677:C:T
                                Gene:
                                SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1431198103 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  8:66767425 (GRCh38)
                                  8:67679660 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:66767424:G:A,NC_000008.11:66767424:G:T
                                  Gene:
                                  SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1429346531 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:66767504 (GRCh38)
                                    8:67679739 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:66767503:T:G
                                    Gene:
                                    SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1424660842 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      C>T
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1406949400 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:66767855 (GRCh38)
                                        8:67680090 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:66767854:C:T
                                        Gene:
                                        SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000071/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1402047588 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          8:66767913 (GRCh38)
                                          8:67680148 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:66767912:T:G
                                          Gene:
                                          SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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