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Items: 1 to 20 of 2143

1.

rs1490435844 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    1:18481782 (GRCh38)
    1:18808276 (GRCh37)
    Canonical SPDI:
    NC_000001.11:18481781:C:A,NC_000001.11:18481781:C:T
    Gene:
    KLHDC7A (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0./0 (GnomAD)
    HGVS:
    2.

    rs1490172618 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:18480257 (GRCh38)
      1:18806751 (GRCh37)
      Canonical SPDI:
      NC_000001.11:18480256:G:A
      Gene:
      KLHDC7A (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000021/3 (GnomAD)
      A=0.00003/8 (TOPMED)
      ...more
      HGVS:
      3.

      rs1489972211 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:18481763 (GRCh38)
        1:18808257 (GRCh37)
        Canonical SPDI:
        NC_000001.11:18481762:C:G
        Gene:
        KLHDC7A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489899326 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          1:18486375 (GRCh38)
          1:18812869 (GRCh37)
          Canonical SPDI:
          NC_000001.11:18486374:C:G
          Gene:
          KLHDC7A (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000066/1 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          G=0.000223/1 (Estonian)
          ...more
          HGVS:
          5.

          rs1489261657 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            1:18483077 (GRCh38)
            1:18809571 (GRCh37)
            Canonical SPDI:
            NC_000001.11:18483076:C:G
            Gene:
            KLHDC7A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1489159229 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:18484387 (GRCh38)
              1:18810881 (GRCh37)
              Canonical SPDI:
              NC_000001.11:18484386:C:G
              Gene:
              KLHDC7A (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              ...more
              HGVS:
              7.

              rs1489128094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:18484803 (GRCh38)
                1:18811297 (GRCh37)
                Canonical SPDI:
                NC_000001.11:18484802:G:A
                Gene:
                KLHDC7A (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                ...more
                HGVS:
                8.

                rs1487515069 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:18479718 (GRCh38)
                  1:18806212 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:18479717:C:G
                  Gene:
                  KLHDC7A (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000084/1 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1486433289 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:18482008 (GRCh38)
                    1:18808502 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:18482007:G:A
                    Gene:
                    KLHDC7A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1486038498 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:18479603 (GRCh38)
                      1:18806097 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:18479602:T:C
                      Gene:
                      KLHDC7A (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1485964913 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:18485150 (GRCh38)
                        1:18811644 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:18485149:G:A
                        Gene:
                        KLHDC7A (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000216/4 (ALFA)
                        A=0.000019/5 (TOPMED)
                        A=0.000029/4 (GnomAD)
                        A=0.000893/4 (Estonian)
                        ...more
                        HGVS:
                        12.

                        rs1485776911 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          1:18481302 (GRCh38)
                          1:18807796 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:18481301:C:A,NC_000001.11:18481301:C:T
                          Gene:
                          KLHDC7A (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000005/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          ...more
                          HGVS:
                          13.

                          rs1485101175 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            1:18485308 (GRCh38)
                            1:18811802 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:18485307:A:C
                            Gene:
                            KLHDC7A (Varview)
                            Functional Consequence:
                            3_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)
                            ...more
                            HGVS:
                            14.

                            rs1484773876 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:18485806 (GRCh38)
                              1:18812300 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:18485805:G:T
                              Gene:
                              KLHDC7A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000023/6 (TOPMED)
                              ...more
                              HGVS:
                              15.

                              rs1484434847 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:18482924 (GRCh38)
                                1:18809418 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:18482923:T:C
                                Gene:
                                KLHDC7A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                ...more
                                HGVS:
                                16.

                                rs1484081132 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  1:18480501 (GRCh38)
                                  1:18806995 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:18480500:T:A,NC_000001.11:18480500:T:C
                                  Gene:
                                  KLHDC7A (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1483466293 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:18480342 (GRCh38)
                                    1:18806836 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:18480341:G:A
                                    Gene:
                                    KLHDC7A (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000224/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000223/1 (Estonian)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1482962418 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:18480514 (GRCh38)
                                      1:18807008 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:18480513:G:T
                                      Gene:
                                      KLHDC7A (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1482243670 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:18481497 (GRCh38)
                                        1:18807991 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:18481496:C:T
                                        Gene:
                                        KLHDC7A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1482015439 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          1:18479364 (GRCh38)
                                          1:18805858 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:18479363:G:T
                                          Gene:
                                          KLHDC7A (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          ...more
                                          HGVS:

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