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Items: 1 to 20 of 741

1.

rs1491567801 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    14:21057618 (GRCh38)
    14:21525777 (GRCh37)
    Canonical SPDI:
    NC_000014.9:21057617:CA:
    Gene:
    NDRG2 (Varview), RNASE8 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490852996 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      T>A
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1489917763 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:21056799 (GRCh38)
        14:21524958 (GRCh37)
        Canonical SPDI:
        NC_000014.9:21056798:G:A
        Gene:
        NDRG2 (Varview), RNASE8 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000084/1 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000015/4 (TOPMED)
        ...more
        HGVS:
        4.

        rs1487310352 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          14:21058215 (GRCh38)
          14:21526374 (GRCh37)
          Canonical SPDI:
          NC_000014.9:21058214:G:T
          Gene:
          NDRG2 (Varview), RNASE8 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1486327052 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            14:21057653 (GRCh38)
            14:21525812 (GRCh37)
            Canonical SPDI:
            NC_000014.9:21057652:A:G
            Gene:
            NDRG2 (Varview), RNASE8 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            ...more
            HGVS:
            6.

            rs1486316177 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:21057954 (GRCh38)
              14:21526113 (GRCh37)
              Canonical SPDI:
              NC_000014.9:21057953:C:A
              Gene:
              NDRG2 (Varview), RNASE8 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              HGVS:
              7.

              rs1485672340 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:21055981 (GRCh38)
                14:21524140 (GRCh37)
                Canonical SPDI:
                NC_000014.9:21055980:G:A
                Gene:
                NDRG2 (Varview), RNASE8 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1483725828 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  14:21056394 (GRCh38)
                  14:21524553 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:21056393:C:G
                  Gene:
                  NDRG2 (Varview), RNASE8 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  ...more
                  HGVS:
                  9.

                  rs1480062327 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:21056557 (GRCh38)
                    14:21524716 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:21056556:C:T
                    Gene:
                    NDRG2 (Varview), RNASE8 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000049/13 (TOPMED)
                    T=0.000342/1 (KOREAN)
                    T=0.000546/1 (Korea1K)
                    ...more
                    HGVS:
                    10.

                    rs1479571556 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      14:21057835 (GRCh38)
                      14:21525994 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:21057834:T:C,NC_000014.9:21057834:T:G
                      Gene:
                      NDRG2 (Varview), RNASE8 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1479264978 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        G>T
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1479212827 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:21058429 (GRCh38)
                          14:21526588 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:21058428:A:G
                          Gene:
                          NDRG2 (Varview), RNASE8 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1476309451 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TGCAGGAACTCAAGCTCCCT>- [Show Flanks]
                            Chromosome:
                            14:21056804 (GRCh38)
                            14:21524963 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:21056799:CCCTTGCAGGAACTCAAGCTCCCT:CCCT
                            Gene:
                            NDRG2 (Varview), RNASE8 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCCT=0.000071/1 (ALFA)
                            -=0.000019/5 (TOPMED)
                            -=0.000029/4 (GnomAD)
                            ...more
                            HGVS:
                            14.

                            rs1476258803 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:21058623 (GRCh38)
                              14:21526782 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:21058622:T:C
                              Gene:
                              NDRG2 (Varview), RNASE8 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1474281216 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->ATCAGG [Show Flanks]
                                Chromosome:
                                14:21057205 (GRCh38)
                                14:21525365 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:21057205:GG:GGATCAGG
                                Gene:
                                NDRG2 (Varview), RNASE8 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGATCAGG=0./0 (ALFA)
                                GGATCA=0.000015/4 (TOPMED)
                                GGATCA=0.000029/4 (GnomAD)
                                ...more
                                HGVS:
                                16.

                                rs1472396312 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:21057064 (GRCh38)
                                  14:21525223 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:21057063:A:G
                                  Gene:
                                  NDRG2 (Varview), RNASE8 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1471632830 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    14:21057906 (GRCh38)
                                    14:21526065 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:21057905:G:C
                                    Gene:
                                    NDRG2 (Varview), RNASE8 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1469659078 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      14:21057952 (GRCh38)
                                      14:21526111 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:21057951:GG:G
                                      Gene:
                                      NDRG2 (Varview), RNASE8 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1469061022 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:21057398 (GRCh38)
                                        14:21525557 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:21057397:T:C
                                        Gene:
                                        NDRG2 (Varview), RNASE8 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1469027345 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:21058446 (GRCh38)
                                          14:21526605 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:21058445:A:G
                                          Gene:
                                          NDRG2 (Varview), RNASE8 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          ...more
                                          HGVS:

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