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Items: 1 to 20 of 379

1.

rs1490394741 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    17:46876633 (GRCh38)
    17:44953999 (GRCh37)
    Canonical SPDI:
    NC_000017.11:46876632:C:G
    Gene:
    WNT9B (Varview), LRRC37A2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1478398924 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:46876651 (GRCh38)
      17:44954017 (GRCh37)
      Canonical SPDI:
      NC_000017.11:46876650:A:G
      Gene:
      WNT9B (Varview), LRRC37A2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000048/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1471203333 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:46875267 (GRCh38)
        17:44952633 (GRCh37)
        Canonical SPDI:
        NC_000017.11:46875266:G:A
        Gene:
        WNT9B (Varview), LRRC37A2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1466900903 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:46872680 (GRCh38)
          17:44950046 (GRCh37)
          Canonical SPDI:
          NC_000017.11:46872679:G:A
          Gene:
          WNT9B (Varview), LRRC37A2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1466526011 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:46876610 (GRCh38)
            17:44953976 (GRCh37)
            Canonical SPDI:
            NC_000017.11:46876609:C:T
            Gene:
            WNT9B (Varview), LRRC37A2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1462515354 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:46875176 (GRCh38)
              17:44952542 (GRCh37)
              Canonical SPDI:
              NC_000017.11:46875175:C:T
              Gene:
              WNT9B (Varview), LRRC37A2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1457871744 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                17:46876603 (GRCh38)
                17:44953969 (GRCh37)
                Canonical SPDI:
                NC_000017.11:46876602:A:G,NC_000017.11:46876602:A:T
                Gene:
                WNT9B (Varview), LRRC37A2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000043/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                T=0.000342/1 (KOREAN)
                HGVS:
                8.

                rs1455173739 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  17:46876473 (GRCh38)
                  17:44953839 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:46876472:A:C
                  Gene:
                  WNT9B (Varview), LRRC37A2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1450443579 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    17:46876450 (GRCh38)
                    17:44953816 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:46876449:G:C
                    Gene:
                    WNT9B (Varview), LRRC37A2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1447945897 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:46876530 (GRCh38)
                      17:44953896 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:46876529:T:C
                      Gene:
                      WNT9B (Varview), LRRC37A2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1444371390 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:46876250 (GRCh38)
                        17:44953616 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:46876249:G:A
                        Gene:
                        WNT9B (Varview), LRRC37A2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1439951991 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:46876495 (GRCh38)
                          17:44953861 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:46876494:T:C
                          Gene:
                          WNT9B (Varview), LRRC37A2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1435202565 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:46833354 (GRCh38)
                            17:44910720 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:46833353:A:G
                            Gene:
                            WNT9B (Varview), LRRC37A2 (Varview), LOC101929777 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            15.

                            rs1429875276 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:46876425 (GRCh38)
                              17:44953791 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:46876424:C:T
                              Gene:
                              WNT9B (Varview), LRRC37A2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1429269791 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                17:46872620 (GRCh38)
                                17:44949987 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:46872620:CCC:CCCC
                                Gene:
                                WNT9B (Varview), LRRC37A2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,frameshift_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1426495015 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:46876650 (GRCh38)
                                  17:44954016 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:46876649:C:T
                                  Gene:
                                  WNT9B (Varview), LRRC37A2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
                                  HGVS:
                                  18.

                                  rs1425530655 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:46872698 (GRCh38)
                                    17:44950064 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:46872697:C:T
                                    Gene:
                                    WNT9B (Varview), LRRC37A2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                    HGVS:
                                    19.

                                    rs1422908876 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      17:46876314 (GRCh38)
                                      17:44953680 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:46876313:T:A
                                      Gene:
                                      WNT9B (Varview), LRRC37A2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      20.

                                      rs1422190478 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        17:46875257 (GRCh38)
                                        17:44952623 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:46875256:A:T
                                        Gene:
                                        WNT9B (Varview), LRRC37A2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000008/2 (GnomAD_exomes)
                                        HGVS:

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