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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491380972 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    17:43215262 (GRCh38)
    17:41367281 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43215260:AGA:A
    Gene:
    TMEM106A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    -=0.000014/2 (GnomAD)
    -=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1491270093 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      17:43219733 (GRCh38)
      17:41371754 (GRCh37)
      Canonical SPDI:
      NC_000017.11:43219733::C
      Gene:
      TMEM106A (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491209323 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        17:43215261 (GRCh38)
        17:41367281 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43215261::T
        Gene:
        TMEM106A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490817430 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          17:43218156 (GRCh38)
          17:41370175 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43218155:T:A
          Gene:
          TMEM106A (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490325418 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            17:43216939 (GRCh38)
            17:41368958 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43216938:G:A,NC_000017.11:43216938:G:T
            Gene:
            TMEM106A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489914232 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              17:43213987 (GRCh38)
              17:41366006 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43213986:T:G
              Gene:
              TMEM106A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488398721 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:43213359 (GRCh38)
                17:41365378 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43213358:C:T
                Gene:
                TMEM106A (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:
                8.

                rs1488368179 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:43214423 (GRCh38)
                  17:41366442 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43214422:T:C
                  Gene:
                  TMEM106A (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:
                  9.

                  rs1488172818 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    17:43211662 (GRCh38)
                    17:41363681 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43211661:T:G
                    Gene:
                    NBR1 (Varview), TMEM106A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1486925321 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      17:43214108 (GRCh38)
                      17:41366128 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:43214108:GGG:GGGG
                      Gene:
                      TMEM106A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GGGG=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      12.
                      13.

                      rs1486734031 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:43213900 (GRCh38)
                        17:41365919 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:43213899:C:G
                        Gene:
                        TMEM106A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        14.

                        rs1485705129 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:43213896 (GRCh38)
                          17:41365915 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:43213895:G:A
                          Gene:
                          TMEM106A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          15.

                          rs1485092271 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:43217474 (GRCh38)
                            17:41369493 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:43217473:A:G
                            Gene:
                            TMEM106A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            17.

                            rs1484879253 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:43217913 (GRCh38)
                              17:41369932 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:43217912:C:T
                              Gene:
                              TMEM106A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.0002/1 (ALFA)
                              T=0.0002/1 (Estonian)
                              HGVS:
                              18.

                              rs1484848136 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                17:43220177 (GRCh38)
                                17:41372197 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:43220176:T:
                                Gene:
                                TMEM106A (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                19.
                                20.

                                rs1484595350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:43210653 (GRCh38)
                                  17:41362672 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:43210652:C:G
                                  Gene:
                                  NBR1 (Varview), TMEM106A (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

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