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Links from Gene

Items: 1 to 20 of 9880

1.

rs1491548181 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    7:117319523 (GRCh38)
    7:116959578 (GRCh37)
    Canonical SPDI:
    NC_000007.14:117319523::C
    Gene:
    WNT2 (Varview), LOC105375467 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000038/2 (GnomAD)
    HGVS:
    2.

    rs1491491631 has merged into rs67181334 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
      Chromosome:
      7:117319531 (GRCh38)
      7:116959585 (GRCh37)
      Canonical SPDI:
      NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGG,NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGGG,NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:117319522:GGGGGGGGGGG:GGGGGGGGGGGGGG
      Gene:
      WNT2 (Varview), LOC105375467 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGGGGGGGG=0.0002/2 (ALFA)
      -=0.45/18 (GENOME_DK)
      HGVS:
      3.

      rs1491272354 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        7:117304432 (GRCh38)
        7:116944486 (GRCh37)
        Canonical SPDI:
        NC_000007.14:117304431:AT:
        Gene:
        WNT2 (Varview), LOC105375467 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491038986 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          7:117286792 (GRCh38)
          7:116926846 (GRCh37)
          Canonical SPDI:
          NC_000007.14:117286789:TCTC:TC
          Gene:
          WNT2 (Varview), LOC124900596 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TCTC=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490859312 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:117297454 (GRCh38)
            7:116937508 (GRCh37)
            Canonical SPDI:
            NC_000007.14:117297453:G:A
            Gene:
            WNT2 (Varview), LOC124900596 (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)
            A=0.000106/2 (TOMMO)
            HGVS:
            6.

            rs1490800833 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:117289682 (GRCh38)
              7:116929736 (GRCh37)
              Canonical SPDI:
              NC_000007.14:117289681:T:C
              Gene:
              WNT2 (Varview), LOC124900596 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1490742487 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:117323699 (GRCh38)
                7:116963753 (GRCh37)
                Canonical SPDI:
                NC_000007.14:117323698:G:C
                Gene:
                WNT2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490736952 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  7:117307588 (GRCh38)
                  7:116947642 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:117307587:A:C
                  Gene:
                  WNT2 (Varview), LOC105375467 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490685441 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:117306573 (GRCh38)
                    7:116946627 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:117306572:T:C
                    Gene:
                    WNT2 (Varview), LOC105375467 (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:
                    10.

                    rs1490655172 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      7:117317314 (GRCh38)
                      7:116957368 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:117317313:G:T
                      Gene:
                      WNT2 (Varview), LOC105375467 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490637268 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:117289214 (GRCh38)
                        7:116929268 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:117289213:C:T
                        Gene:
                        WNT2 (Varview), LOC124900596 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000029/4 (GnomAD)
                        T=0.00003/8 (TOPMED)
                        HGVS:
                        12.

                        rs1490573289 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          7:117324203 (GRCh38)
                          7:116964257 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:117324202:G:T
                          Gene:
                          WNT2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490535523 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:117304702 (GRCh38)
                            7:116944756 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:117304701:C:T
                            Gene:
                            WNT2 (Varview), LOC105375467 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490465834 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              7:117324127 (GRCh38)
                              7:116964181 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:117324126:G:C,NC_000007.14:117324126:G:T
                              Gene:
                              WNT2 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              G=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1490419386 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:117298961 (GRCh38)
                                7:116939015 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:117298960:T:C
                                Gene:
                                WNT2 (Varview), LOC105375467 (Varview), LOC124900596 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490401276 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->A [Show Flanks]
                                  Chromosome:
                                  7:117297932 (GRCh38)
                                  7:116937987 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:117297932:AA:AAA
                                  Gene:
                                  WNT2 (Varview), LOC124900596 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AAA=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490313924 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:117290177 (GRCh38)
                                    7:116930231 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:117290176:C:A
                                    Gene:
                                    WNT2 (Varview), LOC124900596 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490245843 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      7:117308274 (GRCh38)
                                      7:116948328 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:117308273:T:C
                                      Gene:
                                      WNT2 (Varview), LOC105375467 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490210317 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:117319377 (GRCh38)
                                        7:116959431 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:117319376:G:A
                                        Gene:
                                        WNT2 (Varview), LOC105375467 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490206449 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:117291497 (GRCh38)
                                          7:116931551 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:117291496:C:T
                                          Gene:
                                          WNT2 (Varview), LOC124900596 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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