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Links from Gene

Items: 1 to 20 of 1218

1.

rs1490115580 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:27322000 (GRCh38)
    1:27648491 (GRCh37)
    Canonical SPDI:
    NC_000001.11:27321999:T:C
    Gene:
    TMEM222 (Varview), ACTG1P20 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1489563526 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      1:27325239 (GRCh38)
      1:27651730 (GRCh37)
      Canonical SPDI:
      NC_000001.11:27325238:T:G
      Gene:
      TMEM222 (Varview), ACTG1P20 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489518169 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:27326440 (GRCh38)
        1:27652931 (GRCh37)
        Canonical SPDI:
        NC_000001.11:27326439:G:A
        Gene:
        TMEM222 (Varview), ACTG1P20 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        A=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1489164939 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:27322480 (GRCh38)
          1:27648971 (GRCh37)
          Canonical SPDI:
          NC_000001.11:27322479:G:A
          Gene:
          TMEM222 (Varview), ACTG1P20 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1488838917 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:27323200 (GRCh38)
            1:27649691 (GRCh37)
            Canonical SPDI:
            NC_000001.11:27323199:A:G
            Gene:
            TMEM222 (Varview), ACTG1P20 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488770152 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:27325440 (GRCh38)
              1:27651931 (GRCh37)
              Canonical SPDI:
              NC_000001.11:27325439:C:G,NC_000001.11:27325439:C:T
              Gene:
              TMEM222 (Varview), ACTG1P20 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488191477 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:27324109 (GRCh38)
                1:27650600 (GRCh37)
                Canonical SPDI:
                NC_000001.11:27324108:T:G
                Gene:
                TMEM222 (Varview), ACTG1P20 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1487825029 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:27325370 (GRCh38)
                  1:27651861 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:27325369:C:T
                  Gene:
                  TMEM222 (Varview), ACTG1P20 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1487202303 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:27323590 (GRCh38)
                    1:27650081 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27323589:G:A
                    Gene:
                    TMEM222 (Varview), ACTG1P20 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1484918121 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      1:27325071 (GRCh38)
                      1:27651562 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:27325070:T:A,NC_000001.11:27325070:T:C
                      Gene:
                      TMEM222 (Varview), ACTG1P20 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484560109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:27325582 (GRCh38)
                        1:27652073 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:27325581:T:C
                        Gene:
                        TMEM222 (Varview), ACTG1P20 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000054/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1484222546 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:27325593 (GRCh38)
                          1:27652084 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:27325592:A:G
                          Gene:
                          TMEM222 (Varview), ACTG1P20 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000072/19 (TOPMED)
                          G=0.000078/11 (GnomAD)
                          HGVS:
                          13.

                          rs1483577824 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:27322150 (GRCh38)
                            1:27648641 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:27322149:G:A
                            Gene:
                            TMEM222 (Varview), ACTG1P20 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000094/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1483348978 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:27326236 (GRCh38)
                              1:27652727 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:27326235:G:A
                              Gene:
                              TMEM222 (Varview), ACTG1P20 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1482472155 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:27323966 (GRCh38)
                                1:27650457 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:27323965:A:G
                                Gene:
                                TMEM222 (Varview), ACTG1P20 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1480038807 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  1:27322703 (GRCh38)
                                  1:27649194 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:27322702:C:A,NC_000001.11:27322702:C:G
                                  Gene:
                                  TMEM222 (Varview), ACTG1P20 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1478999714 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:27324062 (GRCh38)
                                    1:27650553 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:27324061:A:C
                                    Gene:
                                    TMEM222 (Varview), ACTG1P20 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,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.

                                    rs1478654729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:27326476 (GRCh38)
                                      1:27652967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:27326475:C:T
                                      Gene:
                                      TMEM222 (Varview), ACTG1P20 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1477793490 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AGA>- [Show Flanks]
                                        Chromosome:
                                        1:27324575 (GRCh38)
                                        1:27651066 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:27324573:AAGA:A
                                        Gene:
                                        TMEM222 (Varview), ACTG1P20 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1477753192 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:27324026 (GRCh38)
                                          1:27650517 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:27324025:T:C
                                          Gene:
                                          TMEM222 (Varview), ACTG1P20 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,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:

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