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Links from Gene

Items: 1 to 20 of 587

1.

rs1488063401 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:68184390 (GRCh38)
    1:68650073 (GRCh37)
    Canonical SPDI:
    NC_000001.11:68184389:A:G
    Gene:
    WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    G=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1486667417 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:68184660 (GRCh38)
      1:68650343 (GRCh37)
      Canonical SPDI:
      NC_000001.11:68184659:C:G
      Gene:
      WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1486396968 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        1:68184721 (GRCh38)
        1:68650404 (GRCh37)
        Canonical SPDI:
        NC_000001.11:68184720:T:A
        Gene:
        WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        HGVS:
        4.

        rs1482373562 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:68183461 (GRCh38)
          1:68649144 (GRCh37)
          Canonical SPDI:
          NC_000001.11:68183460:C:T
          Gene:
          WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
          Functional Consequence:
          downstream_transcript_variant,intron_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000026/7 (TOPMED)
          HGVS:
          5.

          rs1479818774 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:68184628 (GRCh38)
            1:68650311 (GRCh37)
            Canonical SPDI:
            NC_000001.11:68184627:G:C
            Gene:
            WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000342/1 (KOREAN)
            HGVS:
            6.

            rs1478350316 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              1:68184492 (GRCh38)
              1:68650175 (GRCh37)
              Canonical SPDI:
              NC_000001.11:68184491:CC:C
              Gene:
              WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CC=0./0 (ALFA)
              HGVS:
              7.

              rs1478032882 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                1:68183313 (GRCh38)
                1:68648996 (GRCh37)
                Canonical SPDI:
                NC_000001.11:68183312:T:A,NC_000001.11:68183312:T:C
                Gene:
                WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                Functional Consequence:
                downstream_transcript_variant,intron_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1476353445 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:68185365 (GRCh38)
                  1:68651048 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:68185364:A:G
                  Gene:
                  WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_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.

                  rs1476344192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    1:68184882 (GRCh38)
                    1:68650565 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:68184881:T:A,NC_000001.11:68184881:T:C
                    Gene:
                    WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1476003061 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:68184462 (GRCh38)
                      1:68650145 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:68184461:T:C
                      Gene:
                      WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1472045645 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        >
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1471330835 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:68185140 (GRCh38)
                          1:68650823 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:68185139:C:T
                          Gene:
                          WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,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:
                          13.

                          rs1470252291 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:68184220 (GRCh38)
                            1:68649903 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:68184219:C:A,NC_000001.11:68184219:C:T
                            Gene:
                            WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1469204765 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TTCT [Show Flanks]
                              Chromosome:
                              1:68185454 (GRCh38)
                              1:68651138 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:68185454::TTCT
                              Gene:
                              WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TTCT=0./0 (ALFA)
                              TTCT=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1468729510 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                1:68185379 (GRCh38)
                                1:68651062 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:68185378:T:A,NC_000001.11:68185378:T:C
                                Gene:
                                WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000021/3 (GnomAD)
                                A=0.000023/6 (TOPMED)
                                HGVS:
                                16.

                                rs1467381261 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:68184951 (GRCh38)
                                  1:68650634 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:68184950:A:T
                                  Gene:
                                  WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1466273488 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:68183489 (GRCh38)
                                    1:68649172 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:68183488:C:G
                                    Gene:
                                    WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1464391971 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:68183398 (GRCh38)
                                      1:68649081 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:68183397:A:G
                                      Gene:
                                      WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1463324099 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:68184094 (GRCh38)
                                        1:68649777 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:68184093:A:T
                                        Gene:
                                        WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000038/10 (TOPMED)
                                        T=0.00005/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1463292127 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          1:68184263 (GRCh38)
                                          1:68649946 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:68184262:A:G,NC_000001.11:68184262:A:T
                                          Gene:
                                          WLS (Varview), GNG12-AS1 (Varview), MIR1262 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          T=0.000035/1 (TOMMO)
                                          G=0.000036/5 (GnomAD)
                                          G=0.00006/16 (TOPMED)
                                          HGVS:

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