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Links from Nucleotide

Items: 1 to 20 of 4707

1.

rs1491373099 has merged into rs111665955 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    2:218881571 (GRCh38)
    2:219746293 (GRCh37)
    Canonical SPDI:
    NC_000002.12:218881568:TTTT:TT
    Gene:
    WNT10A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTT=0./0 (ALFA)
    -=0.000216/30 (GnomAD)
    -=0.000425/7 (TOMMO)
    -=0.030475/113 (TWINSUK)
    -=0.038402/148 (ALSPAC)
    -=0.042031/77 (Korea1K)
    HGVS:
    2.

    rs1491190687 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CG>- [Show Flanks]
      Chromosome:
      2:218880483 (GRCh38)
      2:219745205 (GRCh37)
      Canonical SPDI:
      NC_000002.12:218880481:GCG:G
      Gene:
      WNT10A (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.03659/434 (ALFA)
      -=0.00088/12 (TOMMO)
      -=0.04841/310 (1000Genomes)
      -=0.16786/6099 (GnomAD)
      HGVS:
      3.

      rs1490972308 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        C>-,CC [Show Flanks]
        Chromosome:
        2:218888325 (GRCh38)
        2:219753047 (GRCh37)
        Canonical SPDI:
        NC_000002.12:218888324:CCCCC:CCCC,NC_000002.12:218888324:CCCCC:CCCCCC
        Gene:
        WNT10A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CCCCCC=0./0 (ALFA)
        HGVS:
        4.

        rs1490654411 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          2:218892419 (GRCh38)
          2:219757141 (GRCh37)
          Canonical SPDI:
          NC_000002.12:218892418:G:C
          Gene:
          WNT10A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1490293305 has merged into rs995033795 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>-,GG,GGG,GGGG,GGGGG [Show Flanks]
            Chromosome:
            2:218880481 (GRCh38)
            2:219745203 (GRCh37)
            Canonical SPDI:
            NC_000002.12:218880480:GG:G,NC_000002.12:218880480:GG:GGG,NC_000002.12:218880480:GG:GGGG,NC_000002.12:218880480:GG:GGGGG,NC_000002.12:218880480:GG:GGGGGG
            Gene:
            WNT10A (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGG=0./0 (ALFA)
            -=0.000019/5 (TOPMED)
            GGG=0.000091/1 (TOMMO)
            HGVS:
            6.

            rs1490274443 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:218881018 (GRCh38)
              2:219745740 (GRCh37)
              Canonical SPDI:
              NC_000002.12:218881017:C:G
              Gene:
              WNT10A (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000005/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1490205298 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:218890932 (GRCh38)
                2:219755654 (GRCh37)
                Canonical SPDI:
                NC_000002.12:218890931:G:A
                Gene:
                WNT10A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489644970 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:218889534 (GRCh38)
                  2:219754256 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:218889533:C:G
                  Gene:
                  WNT10A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489569325 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:218892305 (GRCh38)
                    2:219757027 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:218892304:A:C
                    Gene:
                    WNT10A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.23214/39 (GnomAD)
                    A=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1489441930 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:218883574 (GRCh38)
                      2:219748296 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:218883573:C:T
                      Gene:
                      WNT10A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489293427 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:218894942 (GRCh38)
                        2:219759664 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:218894941:G:C
                        Gene:
                        LOC105373882 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000015/4 (TOPMED)
                        C=0.000036/5 (GnomAD)
                        C=0.000312/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1489185469 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:218879417 (GRCh38)
                          2:219744139 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:218879416:G:A
                          Gene:
                          WNT10A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1489143394 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:218877741 (GRCh38)
                            2:219742463 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:218877740:A:C
                            Gene:
                            WNT10A (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000142/2 (ALFA)
                            C=0.0001/14 (GnomAD)
                            C=0.000102/27 (TOPMED)
                            HGVS:
                            14.

                            rs1489138067 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              2:218893886 (GRCh38)
                              2:219758608 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:218893885:TT:T
                              Gene:
                              WNT10A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488996194 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>-,GG [Show Flanks]
                                Chromosome:
                                2:218879662 (GRCh38)
                                2:219744384 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:218879661:GG:G,NC_000002.12:218879661:GG:GGG
                                Gene:
                                WNT10A (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGG=0./0 (ALFA)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488871901 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:218875715 (GRCh38)
                                  2:219740437 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:218875714:G:A
                                  Gene:
                                  WNT10A (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1488459196 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:218883066 (GRCh38)
                                    2:219747788 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:218883065:T:C
                                    Gene:
                                    WNT10A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488327634 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:218892764 (GRCh38)
                                      2:219757486 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:218892763:C:T
                                      Gene:
                                      WNT10A (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:
                                      19.

                                      rs1488241275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:218877519 (GRCh38)
                                        2:219742241 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:218877518:C:T
                                        Gene:
                                        WNT10A (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,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:
                                        20.

                                        rs1488019548 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:218890240 (GRCh38)
                                          2:219754962 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:218890239:G:A
                                          Gene:
                                          WNT10A (Varview)
                                          Functional Consequence:
                                          stop_gained,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.0002/1 (ALFA)
                                          A=0.0002/1 (Estonian)
                                          HGVS:

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