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Links from Nucleotide

Items: 1 to 20 of 157

1.

rs1488870253 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:63704375 (GRCh38)
    1:64170046 (GRCh37)
    Canonical SPDI:
    NC_000001.11:63704374:A:G
    Gene:
    LOC105378771 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    2.

    rs1486618064 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:63704328 (GRCh38)
      1:64169999 (GRCh37)
      Canonical SPDI:
      NC_000001.11:63704327:T:C
      Gene:
      LOC105378771 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1485239608 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        1:63704109 (GRCh38)
        1:64169780 (GRCh37)
        Canonical SPDI:
        NC_000001.11:63704108:A:C
        Gene:
        LOC105378771 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000019/5 (TOPMED)
        C=0.000036/5 (GnomAD)
        HGVS:
        4.

        rs1475119781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:63703954 (GRCh38)
          1:64169625 (GRCh37)
          Canonical SPDI:
          NC_000001.11:63703953:A:G
          Gene:
          LOC105378771 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.000014/2 (GnomAD)
          G=0.000342/1 (KOREAN)
          HGVS:
          5.

          rs1473962034 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:63704412 (GRCh38)
            1:64170083 (GRCh37)
            Canonical SPDI:
            NC_000001.11:63704411:G:A
            Gene:
            LOC105378771 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1471344975 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:63704099 (GRCh38)
              1:64169770 (GRCh37)
              Canonical SPDI:
              NC_000001.11:63704098:C:G,NC_000001.11:63704098:C:T
              Gene:
              LOC105378771 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              T=0.000035/1 (TOMMO)
              T=0.000156/1 (1000Genomes)
              T=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1469676508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:63704413 (GRCh38)
                1:64170084 (GRCh37)
                Canonical SPDI:
                NC_000001.11:63704412:A:C
                Gene:
                LOC105378771 (Varview)
                Functional Consequence:
                non_coding_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:
                8.

                rs1466447634 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:63703936 (GRCh38)
                  1:64169607 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:63703935:A:G
                  Gene:
                  LOC105378771 (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=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1462398917 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:63727737 (GRCh38)
                    1:64193408 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:63727736:C:T
                    Gene:
                    LOC105378771 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000224/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000223/1 (Estonian)
                    HGVS:
                    10.

                    rs1450630946 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:63727738 (GRCh38)
                      1:64193409 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:63727737:T:C
                      Gene:
                      LOC105378771 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1440016128 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        1:63703988 (GRCh38)
                        1:64169659 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:63703987:A:C
                        Gene:
                        LOC105378771 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1438708613 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:63703969 (GRCh38)
                          1:64169640 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:63703968:G:A
                          Gene:
                          LOC105378771 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000019/5 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1433076244 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:63704224 (GRCh38)
                            1:64169895 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:63704223:A:G
                            Gene:
                            LOC105378771 (Varview)
                            Functional Consequence:
                            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:
                            14.

                            rs1431951609 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:63704251 (GRCh38)
                              1:64169922 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:63704250:A:G
                              Gene:
                              LOC105378771 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1428051502 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:63703892 (GRCh38)
                                1:64169563 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:63703891:T:C
                                Gene:
                                LOC105378771 (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:
                                16.

                                rs1426495421 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:63703878 (GRCh38)
                                  1:64169549 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:63703877:G:A
                                  Gene:
                                  LOC105378771 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1426282155 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:63703922 (GRCh38)
                                    1:64169593 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:63703921:A:G
                                    Gene:
                                    LOC105378771 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1421577247 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:63703927 (GRCh38)
                                      1:64169598 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:63703926:G:A
                                      Gene:
                                      LOC105378771 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1420298887 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        1:63704486 (GRCh38)
                                        1:64170157 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:63704485:T:
                                        Gene:
                                        LOC105378771 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.000054/1 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1416673479 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:63727777 (GRCh38)
                                          1:64193448 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:63727776:A:G
                                          Gene:
                                          LOC105378771 (Varview)
                                          Functional Consequence:
                                          non_coding_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:

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