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Items: 1 to 20 of 2028

1.

rs1490739653 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    20:45701629 (GRCh38)
    20:44330268 (GRCh37)
    Canonical SPDI:
    NC_000020.11:45701628:G:A,NC_000020.11:45701628:G:T
    Gene:
    WFDC13 (Varview), WFDC10B (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1490716960 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      20:45706599 (GRCh38)
      20:44335238 (GRCh37)
      Canonical SPDI:
      NC_000020.11:45706598:C:T
      Gene:
      WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490544597 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        20:45705303 (GRCh38)
        20:44333942 (GRCh37)
        Canonical SPDI:
        NC_000020.11:45705302:C:A
        Gene:
        WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490403647 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          20:45702181 (GRCh38)
          20:44330820 (GRCh37)
          Canonical SPDI:
          NC_000020.11:45702180:G:A
          Gene:
          WFDC13 (Varview), WFDC10B (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.0005/1 (Korea1K)
          HGVS:
          5.

          rs1489663421 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:45704172 (GRCh38)
            20:44332811 (GRCh37)
            Canonical SPDI:
            NC_000020.11:45704171:G:A
            Gene:
            WFDC13 (Varview), WFDC10B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489542525 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:45708393 (GRCh38)
              20:44337032 (GRCh37)
              Canonical SPDI:
              NC_000020.11:45708392:A:G
              Gene:
              WFDC13 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0./0 (KOREAN)
              G=0.000007/1 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1489236986 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:45701098 (GRCh38)
                20:44329737 (GRCh37)
                Canonical SPDI:
                NC_000020.11:45701097:A:G
                Gene:
                WFDC13 (Varview), WFDC10B (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:
                8.

                rs1488393388 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  20:45708987 (GRCh38)
                  20:44337626 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:45708986:CA:
                  Gene:
                  WFDC13 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000036/5 (GnomAD)
                  HGVS:
                  9.

                  rs1488375241 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:45708663 (GRCh38)
                    20:44337302 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:45708662:A:G
                    Gene:
                    WFDC13 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488369045 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      20:45708664 (GRCh38)
                      20:44337303 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:45708663:T:A,NC_000020.11:45708663:T:C
                      Gene:
                      WFDC13 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488180982 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        20:45704644 (GRCh38)
                        20:44333283 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:45704643:C:A,NC_000020.11:45704643:C:T
                        Gene:
                        WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,intron_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        A=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1488082378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:45705367 (GRCh38)
                          20:44334006 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:45705366:A:G
                          Gene:
                          WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488045166 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            20:45707660 (GRCh38)
                            20:44336299 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:45707659:C:T
                            Gene:
                            WFDC13 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1487596629 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              20:45708702 (GRCh38)
                              20:44337341 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:45708701:T:A,NC_000020.11:45708701:T:C
                              Gene:
                              WFDC13 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1487034435 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                20:45705200 (GRCh38)
                                20:44333839 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:45705199:TTTTTT:TTTTT
                                Gene:
                                WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTT=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486887222 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  20:45701989 (GRCh38)
                                  20:44330628 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:45701988:G:T
                                  Gene:
                                  WFDC13 (Varview), WFDC10B (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1486635310 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    20:45706413 (GRCh38)
                                    20:44335052 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:45706412:A:C
                                    Gene:
                                    WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000084/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486544104 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      20:45705071 (GRCh38)
                                      20:44333710 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:45705070:G:C
                                      Gene:
                                      WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486309589 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        20:45706821 (GRCh38)
                                        20:44335460 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:45706820:C:G
                                        Gene:
                                        WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485965095 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:45703610 (GRCh38)
                                          20:44332249 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:45703609:G:A
                                          Gene:
                                          WFDC13 (Varview), WFDC10B (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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