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Links from Nucleotide

Items: 1 to 20 of 205

1.

rs1490481177 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:82715924 (GRCh38)
    17:80673800 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82715923:G:A
    Gene:
    FN3KRP (Varview), LOC101929552 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1488635055 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:82714079 (GRCh38)
      17:80671955 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82714078:A:G
      Gene:
      LOC101929552 (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:
      3.

      rs1481980380 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:82713982 (GRCh38)
        17:80671858 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82713981:G:A
        Gene:
        LOC101929552 (Varview)
        Functional Consequence:
        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:
        4.

        rs1481523607 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GG>- [Show Flanks]
          Chromosome:
          17:82715800 (GRCh38)
          17:80673676 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82715799:GG:
          Gene:
          FN3KRP (Varview), LOC101929552 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1480668582 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:82716013 (GRCh38)
            17:80673889 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82716012:T:C
            Gene:
            FN3KRP (Varview), LOC101929552 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000014/2 (GnomAD)
            C=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1477627248 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TCAT>- [Show Flanks]
              Chromosome:
              17:82716117 (GRCh38)
              17:80673993 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82716116:TCAT:
              Gene:
              FN3KRP (Varview), LOC101929552 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1473882222 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:82716074 (GRCh38)
                17:80673950 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82716073:C:T
                Gene:
                FN3KRP (Varview), LOC101929552 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000019/5 (TOPMED)
                T=0.000684/2 (KOREAN)
                HGVS:
                8.

                rs1473300301 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:82714103 (GRCh38)
                  17:80671979 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82714102:A:G
                  Gene:
                  LOC101929552 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1471153438 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    17:82715604 (GRCh38)
                    17:80673480 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82715603:A:T
                    Gene:
                    FN3KRP (Varview), LOC101929552 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1467037827 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:82715622 (GRCh38)
                      17:80673498 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82715621:G:A
                      Gene:
                      FN3KRP (Varview), LOC101929552 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      A=0.000034/9 (TOPMED)
                      HGVS:
                      11.

                      rs1466278498 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        17:82713934 (GRCh38)
                        17:80671810 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82713933:G:C
                        Gene:
                        LOC101929552 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1462849657 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CTAAAA [Show Flanks]
                          Chromosome:
                          17:82715716 (GRCh38)
                          17:80673593 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82715716:ACTAAAA:ACTAAAACTAAAA
                          Gene:
                          FN3KRP (Varview), LOC101929552 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ACTAAAACTAAAA=0./0 (ALFA)
                          ACTAAA=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1459145246 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            17:82715933 (GRCh38)
                            17:80673809 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82715932:A:T
                            Gene:
                            FN3KRP (Varview), LOC101929552 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1454971674 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              17:82715993 (GRCh38)
                              17:80673869 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82715992:T:G
                              Gene:
                              FN3KRP (Varview), LOC101929552 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1451409393 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                17:82716230 (GRCh38)
                                17:80674106 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82716229:C:
                                Gene:
                                FN3KRP (Varview), LOC101929552 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1448866470 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  17:82716137 (GRCh38)
                                  17:80674013 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82716136:GGG:GG
                                  Gene:
                                  FN3KRP (Varview), LOC101929552 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1448339323 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:82715743 (GRCh38)
                                    17:80673619 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82715742:T:C
                                    Gene:
                                    FN3KRP (Varview), LOC101929552 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_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:
                                    18.

                                    rs1447460981 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      17:82715576 (GRCh38)
                                      17:80673452 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82715575:G:C,NC_000017.11:82715575:G:T
                                      Gene:
                                      FN3KRP (Varview), LOC101929552 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1442262483 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        17:82716248 (GRCh38)
                                        17:80674124 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82716247:T:A,NC_000017.11:82716247:T:C
                                        Gene:
                                        FN3KRP (Varview), LOC101929552 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        A=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1439181543 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          17:82713908 (GRCh38)
                                          17:80671784 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82713907:G:A,NC_000017.11:82713907:G:T
                                          Gene:
                                          LOC101929552 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000066/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000223/1 (Estonian)
                                          HGVS:

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