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Links from Nucleotide

Items: 1 to 20 of 177

1.

rs1488716850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:12980311 (GRCh38)
    12:13133245 (GRCh37)
    Canonical SPDI:
    NC_000012.12:12980310:G:A
    Gene:
    HEBP1 (Varview), GPRC5D-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1484636296 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:12980144 (GRCh38)
      12:13133078 (GRCh37)
      Canonical SPDI:
      NC_000012.12:12980143:G:C
      Gene:
      HEBP1 (Varview), GPRC5D-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1484033800 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:12980016 (GRCh38)
        12:13132950 (GRCh37)
        Canonical SPDI:
        NC_000012.12:12980015:G:A
        Gene:
        HEBP1 (Varview), GPRC5D-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1479851917 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:12980388 (GRCh38)
          12:13133322 (GRCh37)
          Canonical SPDI:
          NC_000012.12:12980387:G:A
          Gene:
          HEBP1 (Varview), GPRC5D-AS1 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1468826773 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:12980504 (GRCh38)
            12:13133438 (GRCh37)
            Canonical SPDI:
            NC_000012.12:12980503:A:G
            Gene:
            HEBP1 (Varview), GPRC5D-AS1 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000038/10 (TOPMED)
            HGVS:
            6.

            rs1466771280 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:12980385 (GRCh38)
              12:13133319 (GRCh37)
              Canonical SPDI:
              NC_000012.12:12980384:G:A
              Gene:
              HEBP1 (Varview), GPRC5D-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1466445079 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                12:12980518 (GRCh38)
                12:13133452 (GRCh37)
                Canonical SPDI:
                NC_000012.12:12980517:T:G
                Gene:
                HEBP1 (Varview), GPRC5D-AS1 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1466282004 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:12927730 (GRCh38)
                  12:13080664 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:12927729:G:A
                  Gene:
                  GPRC5D-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1463373196 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    12:12927756 (GRCh38)
                    12:13080690 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:12927755:A:
                    Gene:
                    GPRC5D-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1461632151 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      12:12979540 (GRCh38)
                      12:13132474 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:12979539:G:T
                      Gene:
                      HEBP1 (Varview), GPRC5D-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1460108250 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        12:12980373 (GRCh38)
                        12:13133307 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:12980372:G:C
                        Gene:
                        HEBP1 (Varview), GPRC5D-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1459807660 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:12980236 (GRCh38)
                          12:13133170 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:12980235:G:A
                          Gene:
                          HEBP1 (Varview), GPRC5D-AS1 (Varview)
                          Functional Consequence:
                          intron_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:
                          13.

                          rs1456267725 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            12:12927742 (GRCh38)
                            12:13080676 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:12927741:C:G,NC_000012.12:12927741:C:T
                            Gene:
                            GPRC5D-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1454755913 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              12:12927729 (GRCh38)
                              12:13080663 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:12927728:T:G
                              Gene:
                              GPRC5D-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1454717609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                12:12980006 (GRCh38)
                                12:13132940 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:12980005:T:C,NC_000012.12:12980005:T:G
                                Gene:
                                HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1454256273 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:12980154 (GRCh38)
                                  12:13133088 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:12980153:T:C
                                  Gene:
                                  HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1448867789 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:12979584 (GRCh38)
                                    12:13132518 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:12979583:T:C
                                    Gene:
                                    HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1445077627 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:12980496 (GRCh38)
                                      12:13133430 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:12980495:G:A
                                      Gene:
                                      HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1439189662 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:12980089 (GRCh38)
                                        12:13133023 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:12980088:C:T
                                        Gene:
                                        HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00007/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1438819663 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->AA [Show Flanks]
                                          Chromosome:
                                          12:12980536 (GRCh38)
                                          12:13133471 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:12980536:A:AAA
                                          Gene:
                                          HEBP1 (Varview), GPRC5D-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAA=0./0 (ALFA)
                                          AA=0.000107/15 (GnomAD)
                                          AA=0.000212/56 (TOPMED)
                                          HGVS:

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