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Links from Gene

Items: 1 to 20 of 6982

1.

rs1491503561 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    9:93322319 (GRCh38)
    9:96084602 (GRCh37)
    Canonical SPDI:
    NC_000009.12:93322319:C:CC
    Validated:
    by frequency,by alfa
    MAF:
    CC=0./0 (ALFA)
    HGVS:
    2.

    rs1491341438 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      9:93347618 (GRCh38)
      9:96109900 (GRCh37)
      Canonical SPDI:
      NC_000009.12:93347616:CGC:C
      Gene:
      C9orf129 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491326463 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TCCCCTGTGACTTGCA [Show Flanks]
        Chromosome:
        9:93347617 (GRCh38)
        9:96109900 (GRCh37)
        Canonical SPDI:
        NC_000009.12:93347617:GCATCCCCTGTGACTTGCA:GCATCCCCTGTGACTTGCATCCCCTGTGACTTGCA
        Gene:
        C9orf129 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GCATCCCCTGTGACTTGCATCCCCTGTGACTTGCA=0./0 (ALFA)
        GCATCCCCTGTGACTT=0.000007/1 (GnomAD)
        GCATCCCCTGTGACTT=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1491112160 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          9:93322320 (GRCh38)
          9:96084602 (GRCh37)
          Canonical SPDI:
          NC_000009.12:93322318:TCT:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000084/1 (ALFA)
          -=0.000061/8 (GnomAD)
          HGVS:
          5.

          rs1490773653 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            9:93326028 (GRCh38)
            9:96088310 (GRCh37)
            Canonical SPDI:
            NC_000009.12:93326027:C:A
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490725929 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              9:93341712 (GRCh38)
              9:96103994 (GRCh37)
              Canonical SPDI:
              NC_000009.12:93341711:C:G
              Gene:
              C9orf129 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490548296 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                9:93347888 (GRCh38)
                9:96110170 (GRCh37)
                Canonical SPDI:
                NC_000009.12:93347887:T:A
                Gene:
                C9orf129 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.000034/9 (TOPMED)
                HGVS:
                8.

                rs1490522702 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:93334334 (GRCh38)
                  9:96096616 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:93334333:T:C
                  Gene:
                  C9orf129 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490470640 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:93335278 (GRCh38)
                    9:96097560 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:93335277:C:T
                    Gene:
                    C9orf129 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490417606 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:93332614 (GRCh38)
                      9:96094896 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:93332613:G:A
                      Gene:
                      C9orf129 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490267842 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        9:93327520 (GRCh38)
                        9:96089802 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:93327519:A:C
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490253233 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          9:93331568 (GRCh38)
                          9:96093850 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:93331567:G:C,NC_000009.12:93331567:G:T
                          Gene:
                          C9orf129 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490215577 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:93328385 (GRCh38)
                            9:96090667 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:93328384:A:G
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.00008/1 (ALFA)
                            HGVS:
                            14.

                            rs1489994237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              9:93321748 (GRCh38)
                              9:96084030 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:93321747:C:A,NC_000009.12:93321747:C:G,NC_000009.12:93321747:C:T
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0./0 (KOREAN)
                              T=0.000004/1 (TOPMED)
                              G=0.000071/1 (TOMMO)
                              HGVS:
                              15.

                              rs1489955672 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:93336722 (GRCh38)
                                9:96099004 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:93336721:G:A
                                Gene:
                                C9orf129 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0./0 (KOREAN)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489756960 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  9:93328021 (GRCh38)
                                  9:96090303 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:93328020:A:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489597386 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    9:93339694 (GRCh38)
                                    9:96101976 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:93339693:G:T
                                    Gene:
                                    C9orf129 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489483523 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:93337461 (GRCh38)
                                      9:96099743 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:93337460:A:G
                                      Gene:
                                      C9orf129 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489294115 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:93340763 (GRCh38)
                                        9:96103045 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:93340762:A:G
                                        Gene:
                                        C9orf129 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000021/3 (GnomAD)
                                        G=0.000038/10 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489080616 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:93343509 (GRCh38)
                                          9:96105791 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:93343508:T:C
                                          Gene:
                                          C9orf129 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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