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Links from Nucleotide

Items: 1 to 20 of 6026

1.

rs1490885881 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    22:36872575 (GRCh38)
    22:37268617 (GRCh37)
    Canonical SPDI:
    NC_000022.11:36872574:G:
    Gene:
    NCF4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000018/2 (GnomAD)
    HGVS:
    2.

    rs1490611181 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:36857117 (GRCh38)
      22:37253159 (GRCh37)
      Canonical SPDI:
      NC_000022.11:36857116:G:A
      Gene:
      NCF4-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000066/1 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      A=0.000035/1 (TOMMO)
      A=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1490395930 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:36872915 (GRCh38)
        22:37268957 (GRCh37)
        Canonical SPDI:
        NC_000022.11:36872914:G:A
        Gene:
        NCF4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000196/4 (TOMMO)
        HGVS:
        4.

        rs1490343241 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          22:36862353 (GRCh38)
          22:37258395 (GRCh37)
          Canonical SPDI:
          NC_000022.11:36862352:CC:C
          Gene:
          NCF4 (Varview), NCF4-AS1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490248456 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            22:36875264 (GRCh38)
            22:37271306 (GRCh37)
            Canonical SPDI:
            NC_000022.11:36875263:AA:A
            Gene:
            NCF4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1490232789 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              22:36876219 (GRCh38)
              22:37272261 (GRCh37)
              Canonical SPDI:
              NC_000022.11:36876218:C:A,NC_000022.11:36876218:C:T
              Gene:
              NCF4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490215218 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:36862286 (GRCh38)
                22:37258328 (GRCh37)
                Canonical SPDI:
                NC_000022.11:36862285:G:A
                Gene:
                NCF4 (Varview), NCF4-AS1 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1490189240 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  22:36863014 (GRCh38)
                  22:37259056 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:36863013:T:C,NC_000022.11:36863013:T:G
                  Gene:
                  NCF4 (Varview), NCF4-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490159813 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    22:36860387 (GRCh38)
                    22:37256429 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:36860386:G:T
                    Gene:
                    NCF4 (Varview), NCF4-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000036/5 (GnomAD)
                    T=0.000053/14 (TOPMED)
                    HGVS:
                    10.

                    rs1490142519 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      22:36868614 (GRCh38)
                      22:37264656 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:36868613:A:C
                      Gene:
                      NCF4 (Varview), NCF4-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490127336 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        22:36861252 (GRCh38)
                        22:37257294 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:36861251:A:C
                        Gene:
                        NCF4 (Varview), NCF4-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        C=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1490117394 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          22:36869611 (GRCh38)
                          22:37265653 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:36869610:C:G
                          Gene:
                          NCF4 (Varview), NCF4-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490109267 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:36858234 (GRCh38)
                            22:37254276 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:36858233:G:A
                            Gene:
                            NCF4-AS1 (Varview)
                            Functional Consequence:
                            intron_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:
                            14.

                            rs1490020205 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:36871641 (GRCh38)
                              22:37267683 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:36871640:T:C
                              Gene:
                              NCF4 (Varview), NCF4-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1489723798 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                22:36856722 (GRCh38)
                                22:37252764 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:36856721:G:T
                                Gene:
                                NCF4-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489511533 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:36858956 (GRCh38)
                                  22:37254998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:36858955:T:C
                                  Gene:
                                  NCF4-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489472152 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    22:36859581 (GRCh38)
                                    22:37255623 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:36859580:C:A
                                    Gene:
                                    NCF4 (Varview), NCF4-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489385924 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      22:36858559 (GRCh38)
                                      22:37254601 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:36858558:T:G
                                      Gene:
                                      NCF4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.0548/895 (ALFA)
                                      G=0.01552/24 (Korea1K)
                                      G=0.02363/395 (TOMMO)
                                      G=0.05662/165 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1489252504 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        22:36867219 (GRCh38)
                                        22:37263261 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:36867218:T:C
                                        Gene:
                                        NCF4 (Varview), NCF4-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489177533 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          22:36867032 (GRCh38)
                                          22:37263074 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:36867031:T:C
                                          Gene:
                                          NCF4 (Varview), NCF4-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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