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Links from Nucleotide

Items: 16

1.

rs1464259216 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:166154795 (GRCh38)
    1:166124032 (GRCh37)
    Canonical SPDI:
    NC_000001.11:166154794:T:C
    Gene:
    FAM78B (Varview), MIR921 (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=0.000018/3 (GnomAD_exomes)
    HGVS:
    2.

    rs1438535041 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:166154769 (GRCh38)
      1:166124006 (GRCh37)
      Canonical SPDI:
      NC_000001.11:166154768:G:A
      Gene:
      FAM78B (Varview), MIR921 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1353122810 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:166154756 (GRCh38)
        1:166123993 (GRCh37)
        Canonical SPDI:
        NC_000001.11:166154755:C:A
        Gene:
        FAM78B (Varview), MIR921 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1307059775 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:166154745 (GRCh38)
          1:166123982 (GRCh37)
          Canonical SPDI:
          NC_000001.11:166154744:A:C
          Gene:
          FAM78B (Varview), MIR921 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1199038899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:166154758 (GRCh38)
            1:166123995 (GRCh37)
            Canonical SPDI:
            NC_000001.11:166154757:C:T
            Gene:
            FAM78B (Varview), MIR921 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            HGVS:
            6.

            rs956176621 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              1:166154767 (GRCh38)
              1:166124004 (GRCh37)
              Canonical SPDI:
              NC_000001.11:166154766:G:A,NC_000001.11:166154766:G:C
              Gene:
              FAM78B (Varview), MIR921 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000034/9 (TOPMED)
              HGVS:
              7.

              rs927382951 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:166154798 (GRCh38)
                1:166124035 (GRCh37)
                Canonical SPDI:
                NC_000001.11:166154797:T:C
                Gene:
                FAM78B (Varview), MIR921 (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=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs779291725 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:166154759 (GRCh38)
                  1:166123996 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:166154758:A:G
                  Gene:
                  FAM78B (Varview), MIR921 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000019/4 (GnomAD_exomes)
                  G=0.000034/9 (TOPMED)
                  G=0.000037/2 (ExAC)
                  G=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs775467908 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    1:166154763 (GRCh38)
                    1:166124000 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:166154762:A:G,NC_000001.11:166154762:A:T
                    Gene:
                    FAM78B (Varview), MIR921 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000056/2 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000024/5 (GnomAD_exomes)
                    G=0.00004/2 (ExAC)
                    HGVS:
                    10.

                    rs768428855 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:166154790 (GRCh38)
                      1:166124027 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:166154789:C:T
                      Gene:
                      FAM78B (Varview), MIR921 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0./0 (ExAC)
                      T=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs757486025 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        1:166154753 (GRCh38)
                        1:166123990 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:166154752:A:G,NC_000001.11:166154752:A:T
                        Gene:
                        FAM78B (Varview), MIR921 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        T=0.000005/1 (GnomAD_exomes)
                        T=0.000017/1 (ExAC)
                        HGVS:
                        12.

                        rs749515564 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:166154747 (GRCh38)
                          1:166123984 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:166154746:T:C
                          Gene:
                          FAM78B (Varview), MIR921 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000016/1 (ExAC)
                          HGVS:
                          13.

                          rs748921038 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:166154748 (GRCh38)
                            1:166123985 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:166154747:G:T
                            Gene:
                            FAM78B (Varview), MIR921 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0./0 (ALSPAC)
                            T=0./0 (GnomAD)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.00027/1 (TWINSUK)
                            HGVS:
                            14.

                            rs746970999 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:166154778 (GRCh38)
                              1:166124015 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:166154777:C:T
                              Gene:
                              FAM78B (Varview), MIR921 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.000005/1 (GnomAD_exomes)
                              T=0.000026/1 (ExAC)
                              HGVS:
                              15.

                              rs745911319 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                1:166154760 (GRCh38)
                                1:166123997 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:166154759:T:C,NC_000001.11:166154759:T:G
                                Gene:
                                FAM78B (Varview), MIR921 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000023/6 (TOPMED)
                                C=0.001667/1 (NorthernSweden)
                                HGVS:
                                16.

                                rs373754478 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  1:166154749 (GRCh38)
                                  1:166123986 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:166154748:A:
                                  Gene:
                                  FAM78B (Varview), MIR921 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.000023/1 (ALFA)
                                  -=0.000157/22 (GnomAD)
                                  -=0.000227/60 (TOPMED)
                                  -=0.00046/103 (GnomAD_exomes)
                                  -=0.00046/8 (TOMMO)
                                  -=0.000651/41 (ExAC)
                                  -=0.000937/5 (1000Genomes)
                                  HGVS:

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