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Links from Gene

Items: 1 to 20 of 2663

1.

rs1490942924 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:133251913 (GRCh38)
    3:132970757 (GRCh37)
    Canonical SPDI:
    NC_000003.12:133251912:A:G
    Gene:
    TMEM108 (Varview), TMEM108-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490747031 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      A>C
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1490680739 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        3:133258082 (GRCh38)
        3:132976926 (GRCh37)
        Canonical SPDI:
        NC_000003.12:133258081:A:T
        Gene:
        TMEM108 (Varview), TMEM108-AS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1490453369 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:133251356 (GRCh38)
          3:132970200 (GRCh37)
          Canonical SPDI:
          NC_000003.12:133251355:A:G
          Gene:
          TMEM108 (Varview), TMEM108-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1489962578 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            3:133251786 (GRCh38)
            3:132970630 (GRCh37)
            Canonical SPDI:
            NC_000003.12:133251785:A:T
            Gene:
            TMEM108 (Varview), TMEM108-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489928296 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:133256745 (GRCh38)
              3:132975589 (GRCh37)
              Canonical SPDI:
              NC_000003.12:133256744:G:A
              Gene:
              TMEM108 (Varview), TMEM108-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489474437 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:133250401 (GRCh38)
                3:132969245 (GRCh37)
                Canonical SPDI:
                NC_000003.12:133250400:C:T
                Gene:
                TMEM108 (Varview), TMEM108-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1489292057 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  3:133258698 (GRCh38)
                  3:132977542 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:133258697:G:
                  Gene:
                  TMEM108 (Varview), TMEM108-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488972551 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    3:133248903 (GRCh38)
                    3:132967747 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:133248902:A:C
                    Gene:
                    TMEM108 (Varview), TMEM108-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488523898 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:133251791 (GRCh38)
                      3:132970635 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:133251790:C:T
                      Gene:
                      TMEM108 (Varview), TMEM108-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488443021 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:133258468 (GRCh38)
                        3:132977312 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:133258467:A:G
                        Gene:
                        TMEM108 (Varview), TMEM108-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488270602 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          3:133246489 (GRCh38)
                          3:132965334 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:133246489::T
                          Gene:
                          TMEM108 (Varview), TMEM108-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488102387 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:133253994 (GRCh38)
                            3:132972838 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:133253993:T:C
                            Gene:
                            TMEM108 (Varview), TMEM108-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.0002/1 (ALFA)
                            C=0.0002/1 (Estonian)
                            HGVS:
                            14.

                            rs1487865877 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              3:133254376 (GRCh38)
                              3:132973220 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:133254375:C:G
                              Gene:
                              TMEM108 (Varview), TMEM108-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1487468394 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                3:133251359 (GRCh38)
                                3:132970203 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:133251358:G:T
                                Gene:
                                TMEM108 (Varview), TMEM108-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486601881 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:133247717 (GRCh38)
                                  3:132966561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:133247716:T:C
                                  Gene:
                                  TMEM108 (Varview), TMEM108-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486452825 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:133252071 (GRCh38)
                                    3:132970915 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:133252070:A:G
                                    Gene:
                                    TMEM108 (Varview), TMEM108-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486380234 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TA>- [Show Flanks]
                                      Chromosome:
                                      3:133251044 (GRCh38)
                                      3:132969888 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:133251040:ATATA:ATA
                                      Gene:
                                      TMEM108 (Varview), TMEM108-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      ATA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486226840 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:133254393 (GRCh38)
                                        3:132973237 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:133254392:T:C
                                        Gene:
                                        TMEM108 (Varview), TMEM108-AS1 (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:
                                        20.

                                        rs1486088417 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          3:133255775 (GRCh38)
                                          3:132974619 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:133255774:GG:G
                                          Gene:
                                          TMEM108 (Varview), TMEM108-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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