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Links from Gene

Items: 1 to 20 of 2000

1.

rs1490897559 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    7:75156300 (GRCh38)
    7:74572107 (GRCh37)
    Canonical SPDI:
    NC_000007.14:75156300:TTTTTT:TTTTTTT
    Gene:
    NCF1C (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    T=0.000009/1 (GnomAD)
    T=0.000035/1 (TOMMO)
    T=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1490790819 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      7:75164228 (GRCh38)
      7:74580033 (GRCh37)
      Canonical SPDI:
      NC_000007.14:75164227:T:A
      Gene:
      NCF1C (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000018/2 (GnomAD)
      HGVS:
      3.

      rs1490515489 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:75165736 (GRCh38)
        7:74581541 (GRCh37)
        Canonical SPDI:
        NC_000007.14:75165735:G:A
        Gene:
        NCF1C (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490408615 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          7:75156726 (GRCh38)
          7:74572532 (GRCh37)
          Canonical SPDI:
          NC_000007.14:75156725:A:G
          Gene:
          NCF1C (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.00014/2 (TOMMO)
          HGVS:
          5.

          rs1489972361 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            7:75163863 (GRCh38)
            7:74579668 (GRCh37)
            Canonical SPDI:
            NC_000007.14:75163862:T:G
            Gene:
            NCF1C (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489713764 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              7:75157774 (GRCh38)
              7:74573580 (GRCh37)
              Canonical SPDI:
              NC_000007.14:75157773:C:A
              Gene:
              NCF1C (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489598156 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:75165116 (GRCh38)
                7:74580921 (GRCh37)
                Canonical SPDI:
                NC_000007.14:75165115:C:T
                Gene:
                NCF1C (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1489460097 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  7:75162099 (GRCh38)
                  7:74577904 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:75162098:A:C,NC_000007.14:75162098:A:G
                  Gene:
                  NCF1C (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489331804 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    7:75163434 (GRCh38)
                    7:74579239 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:75163433:G:C,NC_000007.14:75163433:G:T
                    Gene:
                    NCF1C (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000017/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489258889 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:75162477 (GRCh38)
                      7:74578282 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:75162476:C:T
                      Gene:
                      NCF1C (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000106/3 (TOMMO)
                      T=0.000156/1 (1000Genomes)
                      HGVS:
                      11.

                      rs1488913995 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:75170826 (GRCh38)
                        7:74586630 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:75170825:G:A
                        Gene:
                        NCF1C (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488627473 has merged into rs587716880 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:75157304 (GRCh38)
                          7:74573110 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:75157303:G:A
                          Gene:
                          NCF1C (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000959/20 (ALFA)
                          A=0.000418/59 (GnomAD_exomes)
                          A=0.000616/8 (ExAC)
                          A=0.001198/6 (1000Genomes)
                          A=0.001764/467 (TOPMED)
                          A=0.00177/247 (GnomAD)
                          G=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1488230576 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            7:75165802 (GRCh38)
                            7:74581607 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:75165801:C:A,NC_000007.14:75165801:C:T
                            Gene:
                            NCF1C (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.00468/30 (1000Genomes)
                            HGVS:
                            14.

                            rs1488056034 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              7:75157392 (GRCh38)
                              7:74573198 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:75157391:C:A,NC_000007.14:75157391:C:G,NC_000007.14:75157391:C:T
                              Gene:
                              NCF1C (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)
                              G=0.000014/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1487982676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:75156818 (GRCh38)
                                7:74572624 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:75156817:C:T
                                Gene:
                                NCF1C (Varview)
                                Functional Consequence:
                                non_coding_transcript_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.

                                rs1487900282 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:75162691 (GRCh38)
                                  7:74578496 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:75162690:C:T
                                  Gene:
                                  NCF1C (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487600005 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    7:75162089 (GRCh38)
                                    7:74577894 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:75162088:C:G
                                    Gene:
                                    NCF1C (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00582/69 (ALFA)
                                    G=0.00625/40 (1000Genomes)
                                    G=0.00756/590 (GnomAD)
                                    C=0.5/2 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1487143658 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      7:75163948 (GRCh38)
                                      7:74579753 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:75163947:T:C,NC_000007.14:75163947:T:G
                                      Gene:
                                      NCF1C (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486936093 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        7:75160101 (GRCh38)
                                        7:74575906 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:75160100:A:C,NC_000007.14:75160100:A:G
                                        Gene:
                                        NCF1C (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.00009/1 (ALFA)
                                        G=0.00002/1 (GnomAD)
                                        C=0.04138/120 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1486905275 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          7:75158902 (GRCh38)
                                          7:74574708 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:75158901:C:A,NC_000007.14:75158901:C:T
                                          Gene:
                                          NCF1C (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.00004/3 (GnomAD)
                                          A=0.00031/2 (1000Genomes)
                                          HGVS:

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