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Items: 1 to 20 of 1606

1.

rs1489871622 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:100186078 (GRCh38)
    4:101107235 (GRCh37)
    Canonical SPDI:
    NC_000004.12:100186077:C:T
    Gene:
    DDIT4L (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489531519 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      4:100190538 (GRCh38)
      4:101111695 (GRCh37)
      Canonical SPDI:
      NC_000004.12:100190537:G:A,NC_000004.12:100190537:G:C
      Gene:
      DDIT4L (Varview), DDIT4L-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.00008/1 (ALFA)
      C=0.00032/5 (TOMMO)
      HGVS:
      3.

      rs1489226067 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:100189961 (GRCh38)
        4:101111118 (GRCh37)
        Canonical SPDI:
        NC_000004.12:100189960:C:T
        Gene:
        DDIT4L (Varview), DDIT4L-AS1 (Varview)
        Functional Consequence:
        missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489082792 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:100187690 (GRCh38)
          4:101108847 (GRCh37)
          Canonical SPDI:
          NC_000004.12:100187689:A:G
          Gene:
          DDIT4L (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488912819 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            4:100191647 (GRCh38)
            4:101112804 (GRCh37)
            Canonical SPDI:
            NC_000004.12:100191646:C:A
            Gene:
            DDIT4L (Varview), DDIT4L-AS1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1488817356 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATT>- [Show Flanks]
              Chromosome:
              4:100185890 (GRCh38)
              4:101107047 (GRCh37)
              Canonical SPDI:
              NC_000004.12:100185887:TTATT:TT
              Gene:
              DDIT4L (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488563822 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                4:100190217 (GRCh38)
                4:101111374 (GRCh37)
                Canonical SPDI:
                NC_000004.12:100190216:C:A,NC_000004.12:100190216:C:G
                Gene:
                DDIT4L (Varview), DDIT4L-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1488035042 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:100188445 (GRCh38)
                  4:101109602 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:100188444:A:G
                  Gene:
                  DDIT4L (Varview), DDIT4L-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1487923436 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    4:100192198 (GRCh38)
                    4:101113355 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:100192197:C:G,NC_000004.12:100192197:C:T
                    Gene:
                    DDIT4L (Varview), DDIT4L-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487893821 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      4:100191063 (GRCh38)
                      4:101112220 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:100191062:T:A
                      Gene:
                      DDIT4L (Varview), DDIT4L-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1487374256 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:100190786 (GRCh38)
                        4:101111943 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:100190785:C:A
                        Gene:
                        DDIT4L (Varview), DDIT4L-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000224/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        12.

                        rs1486571184 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:100189345 (GRCh38)
                          4:101110502 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:100189344:T:C
                          Gene:
                          DDIT4L (Varview), DDIT4L-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486348821 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            4:100188299 (GRCh38)
                            4:101109456 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:100188298:G:A,NC_000004.12:100188298:G:T
                            Gene:
                            DDIT4L (Varview), DDIT4L-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486261161 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:100189717 (GRCh38)
                              4:101110874 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:100189716:C:T
                              Gene:
                              DDIT4L (Varview), DDIT4L-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1485601730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:100186002 (GRCh38)
                                4:101107159 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:100186001:T:C
                                Gene:
                                DDIT4L (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1485407829 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:100188514 (GRCh38)
                                  4:101109671 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:100188513:T:C
                                  Gene:
                                  DDIT4L (Varview), DDIT4L-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485303215 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:100189187 (GRCh38)
                                    4:101110344 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:100189186:C:T
                                    Gene:
                                    DDIT4L (Varview), DDIT4L-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000156/1 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1484403409 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:100189317 (GRCh38)
                                      4:101110474 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:100189316:A:G
                                      Gene:
                                      DDIT4L (Varview), DDIT4L-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484183647 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        4:100185779 (GRCh38)
                                        4:101106936 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:100185778:C:A
                                        Gene:
                                        DDIT4L (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484102335 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          4:100190398 (GRCh38)
                                          4:101111555 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:100190397:G:C
                                          Gene:
                                          DDIT4L (Varview), DDIT4L-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000023/6 (TOPMED)
                                          HGVS:

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