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Links from Gene

Items: 1 to 20 of 4129

1.

rs1491401008 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TCTGGGAAGGCAAAAG [Show Flanks]
    Chromosome:
    2:15921139 (GRCh38)
    2:16061262 (GRCh37)
    Canonical SPDI:
    NC_000002.12:15921139::TCTGGGAAGGCAAAAG
    Gene:
    MYCNUT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTGGGAAGGCAAAAG=0./0 (ALFA)
    TCTGGGAAGGCAAAAG=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1490910239 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:15928198 (GRCh38)
      2:16068320 (GRCh37)
      Canonical SPDI:
      NC_000002.12:15928197:A:G
      Gene:
      MYCNUT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490734951 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        2:15921437 (GRCh38)
        2:16061559 (GRCh37)
        Canonical SPDI:
        NC_000002.12:15921436:G:C,NC_000002.12:15921436:G:T
        Gene:
        MYCNUT (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490589264 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:15919480 (GRCh38)
          2:16059603 (GRCh37)
          Canonical SPDI:
          NC_000002.12:15919479:G:A
          Gene:
          MYCNUT (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000026/7 (TOPMED)
          A=0.000342/1 (KOREAN)
          HGVS:
          5.

          rs1490572486 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:15920362 (GRCh38)
            2:16060484 (GRCh37)
            Canonical SPDI:
            NC_000002.12:15920361:A:C
            Gene:
            MYCNUT (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490520788 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              G>A
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1490475787 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                2:15933962 (GRCh38)
                2:16074084 (GRCh37)
                Canonical SPDI:
                NC_000002.12:15933961:G:T
                Gene:
                MYCNUT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490460766 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:15935085 (GRCh38)
                  2:16075207 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:15935084:G:A
                  Gene:
                  MYCNUT (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490108855 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:15926750 (GRCh38)
                    2:16066872 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:15926749:T:C
                    Gene:
                    MYCNUT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1490094643 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:15927739 (GRCh38)
                      2:16067861 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:15927738:G:A
                      Gene:
                      MYCNUT (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1489946981 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        2:15926336 (GRCh38)
                        2:16066458 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:15926335:AA:A
                        Gene:
                        MYCNUT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AA=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489417367 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          2:15918598 (GRCh38)
                          2:16058721 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:15918597:G:A,NC_000002.12:15918597:G:T
                          Gene:
                          MYCNUT (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489334643 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:15932453 (GRCh38)
                            2:16072575 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:15932452:T:C
                            Gene:
                            MYCNUT (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489317374 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              2:15919511 (GRCh38)
                              2:16059634 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:15919510:C:A,NC_000002.12:15919510:C:G
                              Gene:
                              MYCNUT (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000026/7 (TOPMED)
                              A=0.000029/4 (GnomAD)
                              G=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1489198256 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:15933143 (GRCh38)
                                2:16073265 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:15933142:C:T
                                Gene:
                                MYCNUT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489100380 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:15929684 (GRCh38)
                                  2:16069806 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:15929683:G:T
                                  Gene:
                                  MYCNUT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000009/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488799998 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    2:15921410 (GRCh38)
                                    2:16061532 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:15921409:G:A,NC_000002.12:15921409:G:C
                                    Gene:
                                    MYCNUT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000036/5 (GnomAD)
                                    A=0.000156/1 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1488667850 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      2:15922303 (GRCh38)
                                      2:16062425 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:15922302:T:A
                                      Gene:
                                      MYCNUT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00031/2 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1488356705 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:15922324 (GRCh38)
                                        2:16062446 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:15922323:A:C
                                        Gene:
                                        MYCNUT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        HGVS:
                                        20.

                                        rs1488140988 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:15925356 (GRCh38)
                                          2:16065478 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:15925355:C:T
                                          Gene:
                                          MYCNUT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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