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Items: 1 to 20 of 86

1.

rs1476851973 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    18:24014953 (GRCh38)
    18:21594917 (GRCh37)
    Canonical SPDI:
    NC_000018.10:24014952:C:T
    Gene:
    TTC39C (Varview), TTC39C-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.0004/4 (ALFA)
    HGVS:

    2.

    rs1473020096 has merged into rs772504894 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GCGGCGGCG>-,GCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCG [Show Flanks]
      Chromosome:
      18:24014938 (GRCh38)
      18:21594902 (GRCh37)
      Canonical SPDI:
      NC_000018.10:24014931:GCGGCGGCGGCGGCG:GCGGCG,NC_000018.10:24014931:GCGGCGGCGGCGGCG:GCGGCGGCGGCG,NC_000018.10:24014931:GCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCG,NC_000018.10:24014931:GCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCG
      Gene:
      TTC39C (Varview), TTC39C-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_insertion,inframe_deletion,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GCGGCGGCGGCGGCGGCGGCG=0.00011/3 (ALFA)
      GCG=0.00045/2 (Estonian)
      GCG=0.00085/14 (TOMMO)
      GCG=0.00859/16 (GoESP)
      HGVS:
      NC_000018.10:g.24014932GCG[2], NC_000018.10:g.24014932GCG[4], NC_000018.10:g.24014932GCG[6], NC_000018.10:g.24014932GCG[7], NC_000018.9:g.21594896GCG[2], NC_000018.9:g.21594896GCG[4], NC_000018.9:g.21594896GCG[6], NC_000018.9:g.21594896GCG[7], XM_011525814.4:c.61GCG[2], XM_011525814.4:c.61GCG[4], XM_011525814.4:c.61GCG[6], XM_011525814.4:c.61GCG[7], XM_011525814.3:c.61GCG[2], XM_011525814.3:c.61GCG[4], XM_011525814.3:c.61GCG[6], XM_011525814.3:c.61GCG[7], XM_011525814.2:c.61GCG[2], XM_011525814.2:c.61GCG[4], XM_011525814.2:c.61GCG[6], XM_011525814.2:c.61GCG[7], XM_011525814.1:c.61GCG[2], XM_011525814.1:c.61GCG[4], XM_011525814.1:c.61GCG[6], XM_011525814.1:c.61GCG[7], XM_006722392.4:c.61GCG[2], XM_006722392.4:c.61GCG[4], XM_006722392.4:c.61GCG[6], XM_006722392.4:c.61GCG[7], XM_006722392.3:c.61GCG[2], XM_006722392.3:c.61GCG[4], XM_006722392.3:c.61GCG[6], XM_006722392.3:c.61GCG[7], XM_006722392.2:c.61GCG[2], XM_006722392.2:c.61GCG[4], XM_006722392.2:c.61GCG[6], XM_006722392.2:c.61GCG[7], XM_006722392.1:c.61GCG[2], XM_006722392.1:c.61GCG[4], XM_006722392.1:c.61GCG[6], XM_006722392.1:c.61GCG[7], NM_001135993.2:c.61GCG[2], NM_001135993.2:c.61GCG[4], NM_001135993.2:c.61GCG[6], NM_001135993.2:c.61GCG[7], NM_001135993.1:c.61GCG[2], NM_001135993.1:c.61GCG[4], NM_001135993.1:c.61GCG[6], NM_001135993.1:c.61GCG[7], NM_001243425.2:c.61GCG[2], NM_001243425.2:c.61GCG[4], NM_001243425.2:c.61GCG[6], NM_001243425.2:c.61GCG[7], NM_001243425.1:c.61GCG[2], NM_001243425.1:c.61GCG[4], NM_001243425.1:c.61GCG[6], NM_001243425.1:c.61GCG[7], XM_047437297.1:c.-1030GCG[2], XM_047437297.1:c.-1030GCG[4], XM_047437297.1:c.-1030GCG[6], XM_047437297.1:c.-1030GCG[7], XM_047437298.1:c.-723GCG[2], XM_047437298.1:c.-723GCG[4], XM_047437298.1:c.-723GCG[6], XM_047437298.1:c.-723GCG[7], XM_047437296.1:c.-193GCG[2], XM_047437296.1:c.-193GCG[4], XM_047437296.1:c.-193GCG[6], XM_047437296.1:c.-193GCG[7], NR_024232.1:n.513GCG[2], NR_024232.1:n.513GCG[4], NR_024232.1:n.513GCG[6], NR_024232.1:n.513GCG[7], XP_011524116.1:p.Ala23_Ala25del, XP_011524116.1:p.Ala25del, XP_011524116.1:p.Ala25dup, XP_011524116.1:p.Ala24_Ala25dup, XP_006722455.1:p.Ala23_Ala25del, XP_006722455.1:p.Ala25del, XP_006722455.1:p.Ala25dup, XP_006722455.1:p.Ala24_Ala25dup, NP_001129465.1:p.Ala23_Ala25del, NP_001129465.1:p.Ala25del, NP_001129465.1:p.Ala25dup, NP_001129465.1:p.Ala24_Ala25dup, NP_001230354.1:p.Ala23_Ala25del, NP_001230354.1:p.Ala25del, NP_001230354.1:p.Ala25dup, NP_001230354.1:p.Ala24_Ala25dup

      3.

      rs1464166200 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:24014889 (GRCh38)
        18:21594853 (GRCh37)
        Canonical SPDI:
        NC_000018.10:24014888:G:A
        Gene:
        TTC39C (Varview), TTC39C-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
        HGVS:

        4.

        rs1461385169 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          18:24014882 (GRCh38)
          18:21594846 (GRCh37)
          Canonical SPDI:
          NC_000018.10:24014881:C:G,NC_000018.10:24014881:C:T
          Gene:
          TTC39C (Varview), TTC39C-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000019/5 (TOPMED)
          HGVS:
          NC_000018.10:g.24014882C>G, NC_000018.10:g.24014882C>T, NC_000018.9:g.21594846C>G, NC_000018.9:g.21594846C>T, XM_011525814.4:c.11C>G, XM_011525814.4:c.11C>T, XM_011525814.3:c.11C>G, XM_011525814.3:c.11C>T, XM_011525814.2:c.11C>G, XM_011525814.2:c.11C>T, XM_011525814.1:c.11C>G, XM_011525814.1:c.11C>T, XM_006722392.4:c.11C>G, XM_006722392.4:c.11C>T, XM_006722392.3:c.11C>G, XM_006722392.3:c.11C>T, XM_006722392.2:c.11C>G, XM_006722392.2:c.11C>T, XM_006722392.1:c.11C>G, XM_006722392.1:c.11C>T, NM_001135993.2:c.11C>G, NM_001135993.2:c.11C>T, NM_001135993.1:c.11C>G, NM_001135993.1:c.11C>T, NM_001243425.2:c.11C>G, NM_001243425.2:c.11C>T, NM_001243425.1:c.11C>G, NM_001243425.1:c.11C>T, XM_047437297.1:c.-1080C>G, XM_047437297.1:c.-1080C>T, XM_047437298.1:c.-773C>G, XM_047437298.1:c.-773C>T, XM_047437296.1:c.-243C>G, XM_047437296.1:c.-243C>T, NR_024232.1:n.463C>G, NR_024232.1:n.463C>T, XP_011524116.1:p.Ser4Trp, XP_011524116.1:p.Ser4Leu, XP_006722455.1:p.Ser4Trp, XP_006722455.1:p.Ser4Leu, NP_001129465.1:p.Ser4Trp, NP_001129465.1:p.Ser4Leu, NP_001230354.1:p.Ser4Trp, NP_001230354.1:p.Ser4Leu

          5.

          rs1412191680 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            18:24014875 (GRCh38)
            18:21594839 (GRCh37)
            Canonical SPDI:
            NC_000018.10:24014874:G:T
            Gene:
            TTC39C (Varview), TTC39C-AS1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_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:

            6.

            rs1411862151 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              18:24014970 (GRCh38)
              18:21594934 (GRCh37)
              Canonical SPDI:
              NC_000018.10:24014969:C:G,NC_000018.10:24014969:C:T
              Gene:
              TTC39C (Varview), TTC39C-AS1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/1 (GnomAD_exomes)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000018.10:g.24014970C>G, NC_000018.10:g.24014970C>T, NC_000018.9:g.21594934C>G, NC_000018.9:g.21594934C>T, XM_011525814.4:c.99C>G, XM_011525814.4:c.99C>T, XM_011525814.3:c.99C>G, XM_011525814.3:c.99C>T, XM_011525814.2:c.99C>G, XM_011525814.2:c.99C>T, XM_011525814.1:c.99C>G, XM_011525814.1:c.99C>T, XM_006722392.4:c.99C>G, XM_006722392.4:c.99C>T, XM_006722392.3:c.99C>G, XM_006722392.3:c.99C>T, XM_006722392.2:c.99C>G, XM_006722392.2:c.99C>T, XM_006722392.1:c.99C>G, XM_006722392.1:c.99C>T, NM_001135993.2:c.99C>G, NM_001135993.2:c.99C>T, NM_001135993.1:c.99C>G, NM_001135993.1:c.99C>T, NM_001243425.2:c.99C>G, NM_001243425.2:c.99C>T, NM_001243425.1:c.99C>G, NM_001243425.1:c.99C>T, XM_047437297.1:c.-992C>G, XM_047437297.1:c.-992C>T, XM_047437298.1:c.-685C>G, XM_047437298.1:c.-685C>T, XM_047437296.1:c.-155C>G, XM_047437296.1:c.-155C>T, NR_024232.1:n.551C>G, NR_024232.1:n.551C>T

              7.

              rs1411130713 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                18:24015032 (GRCh38)
                18:21594996 (GRCh37)
                Canonical SPDI:
                NC_000018.10:24015031:A:G
                Gene:
                TTC39C (Varview), TTC39C-AS1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:

                8.

                rs1400919839 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  18:24014929 (GRCh38)
                  18:21594893 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:24014928:G:T
                  Gene:
                  TTC39C (Varview), TTC39C-AS1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_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:

                  9.

                  rs1397395687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:24014959 (GRCh38)
                    18:21594923 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:24014958:G:A
                    Gene:
                    TTC39C (Varview), TTC39C-AS1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1393909792 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AGCGGC [Show Flanks]
                      Chromosome:
                      18:24014925 (GRCh38)
                      18:21594890 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:24014925:GCGGCAGCGGC:GCGGCAGCGGCAGCGGC
                      Gene:
                      TTC39C (Varview), TTC39C-AS1 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_insertion
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GCGGCAGCGGCAGCGGC=0./0 (ALFA)
                      GCGGCA=0.000004/1 (TOPMED)
                      GCGGCA=0.000035/1 (TOMMO)
                      HGVS:

                      11.

                      rs1374057942 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:24014893 (GRCh38)
                        18:21594857 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:24014892:C:T
                        Gene:
                        TTC39C (Varview), TTC39C-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1373370079 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          18:24014976 (GRCh38)
                          18:21594940 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:24014975:C:A,NC_000018.10:24014975:C:T
                          Gene:
                          TTC39C (Varview), TTC39C-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/1 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.24014976C>A, NC_000018.10:g.24014976C>T, NC_000018.9:g.21594940C>A, NC_000018.9:g.21594940C>T, XM_011525814.4:c.105C>A, XM_011525814.4:c.105C>T, XM_011525814.3:c.105C>A, XM_011525814.3:c.105C>T, XM_011525814.2:c.105C>A, XM_011525814.2:c.105C>T, XM_011525814.1:c.105C>A, XM_011525814.1:c.105C>T, XM_006722392.4:c.105C>A, XM_006722392.4:c.105C>T, XM_006722392.3:c.105C>A, XM_006722392.3:c.105C>T, XM_006722392.2:c.105C>A, XM_006722392.2:c.105C>T, XM_006722392.1:c.105C>A, XM_006722392.1:c.105C>T, NM_001135993.2:c.105C>A, NM_001135993.2:c.105C>T, NM_001135993.1:c.105C>A, NM_001135993.1:c.105C>T, NM_001243425.2:c.105C>A, NM_001243425.2:c.105C>T, NM_001243425.1:c.105C>A, NM_001243425.1:c.105C>T, XM_047437297.1:c.-986C>A, XM_047437297.1:c.-986C>T, XM_047437298.1:c.-679C>A, XM_047437298.1:c.-679C>T, XM_047437296.1:c.-149C>A, XM_047437296.1:c.-149C>T, NR_024232.1:n.557C>A, NR_024232.1:n.557C>T

                          13.

                          rs1357554515 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            18:24014995 (GRCh38)
                            18:21594959 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:24014994:A:G
                            Gene:
                            TTC39C (Varview), TTC39C-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1357314342 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              18:24014984 (GRCh38)
                              18:21594948 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:24014983:A:G
                              Gene:
                              TTC39C (Varview), TTC39C-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1349054892 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                18:24019867 (GRCh38)
                                18:21599831 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:24019866:T:C,NC_000018.10:24019866:T:G
                                Gene:
                                TTC39C (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                G=0.000008/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1348042218 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  18:24015034 (GRCh38)
                                  18:21594998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:24015033:T:C
                                  Gene:
                                  TTC39C (Varview), TTC39C-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1346716124 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:24019860 (GRCh38)
                                    18:21599824 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:24019859:A:G
                                    Gene:
                                    TTC39C (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1342141490 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:24019889 (GRCh38)
                                      18:21599853 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:24019888:C:T
                                      Gene:
                                      TTC39C (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1341407072 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        18:24014918 (GRCh38)
                                        18:21594882 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:24014917:A:C
                                        Gene:
                                        TTC39C (Varview), TTC39C-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1336600346 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          18:24014896 (GRCh38)
                                          18:21594860 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:24014895:C:G
                                          Gene:
                                          TTC39C (Varview), TTC39C-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.00001/1 (GnomAD_exomes)
                                          HGVS:

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