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Links from Nucleotide

Items: 1 to 20 of 528

1.

rs1490528690 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    7:16269810 (GRCh38)
    7:16309435 (GRCh37)
    Canonical SPDI:
    NC_000007.14:16269809:C:G
    Gene:
    CRPPA (Varview), CRPPA-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1489788208 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:16269391 (GRCh38)
      7:16309016 (GRCh37)
      Canonical SPDI:
      NC_000007.14:16269390:C:T
      Gene:
      CRPPA (Varview), CRPPA-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1488014492 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        7:16270375 (GRCh38)
        7:16310000 (GRCh37)
        Canonical SPDI:
        NC_000007.14:16270374:A:T
        Gene:
        CRPPA (Varview), CRPPA-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1488009548 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          7:16268872 (GRCh38)
          7:16308497 (GRCh37)
          Canonical SPDI:
          NC_000007.14:16268871:C:A
          Gene:
          CRPPA (Varview), CRPPA-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1487750802 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:16269573 (GRCh38)
            7:16309198 (GRCh37)
            Canonical SPDI:
            NC_000007.14:16269572:C:T
            Gene:
            CRPPA (Varview), CRPPA-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000224/1 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1486514353 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              7:16270102 (GRCh38)
              7:16309727 (GRCh37)
              Canonical SPDI:
              NC_000007.14:16270101:A:C,NC_000007.14:16270101:A:G
              Gene:
              CRPPA (Varview), CRPPA-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1484757900 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                7:16269672 (GRCh38)
                7:16309297 (GRCh37)
                Canonical SPDI:
                NC_000007.14:16269671:T:C
                Gene:
                CRPPA (Varview), CRPPA-AS1 (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=0.000389/7 (TOMMO)
                HGVS:
                8.

                rs1484049486 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:16269033 (GRCh38)
                  7:16308658 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:16269032:A:G
                  Gene:
                  CRPPA (Varview), CRPPA-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1483725046 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:16210521 (GRCh38)
                    7:16250146 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:16210520:G:A
                    Gene:
                    CRPPA (Varview), CRPPA-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1482321520 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:16269153 (GRCh38)
                      7:16308778 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:16269152:C:T
                      Gene:
                      CRPPA (Varview), CRPPA-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1482010035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        7:16269757 (GRCh38)
                        7:16309382 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:16269756:C:G,NC_000007.14:16269756:C:T
                        Gene:
                        CRPPA (Varview), CRPPA-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1481006649 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:16237360 (GRCh38)
                          7:16276985 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:16237359:T:C
                          Gene:
                          CRPPA (Varview), CRPPA-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1480762996 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:16269895 (GRCh38)
                            7:16309520 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:16269894:A:G
                            Gene:
                            CRPPA (Varview), CRPPA-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1480616991 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              7:16269108 (GRCh38)
                              7:16308733 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:16269107:C:G,NC_000007.14:16269107:C:T
                              Gene:
                              CRPPA (Varview), CRPPA-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1477574767 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:16269789 (GRCh38)
                                7:16309414 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:16269788:A:G
                                Gene:
                                CRPPA (Varview), CRPPA-AS1 (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=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1475887209 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  7:16269430 (GRCh38)
                                  7:16309055 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:16269428:TTT:T
                                  Gene:
                                  CRPPA (Varview), CRPPA-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000084/1 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1473873811 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:16261933 (GRCh38)
                                    7:16301558 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:16261932:T:C
                                    Gene:
                                    CRPPA (Varview), CRPPA-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1470157675 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      A>- [Show Flanks]
                                      Chromosome:
                                      7:16269593 (GRCh38)
                                      7:16309218 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:16269592:AAA:AA
                                      Gene:
                                      CRPPA (Varview), CRPPA-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000023/6 (TOPMED)
                                      -=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1470137939 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        7:16269981 (GRCh38)
                                        7:16309606 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:16269980:T:G
                                        Gene:
                                        CRPPA (Varview), CRPPA-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1470040580 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:16269201 (GRCh38)
                                          7:16308826 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:16269200:T:C
                                          Gene:
                                          CRPPA (Varview), CRPPA-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0./0 (GnomAD)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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