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Items: 1 to 20 of 1000

1.

rs1490997861 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CCCGGGATGGGGGC>- [Show Flanks]
    Chromosome:
    1:2554133 (GRCh38)
    1:2485572 (GRCh37)
    Canonical SPDI:
    NC_000001.11:2554128:GGGCCCCGGGATGGGGGC:GGGC
    Gene:
    TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    GGGC=0.000071/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490800099 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:2558866 (GRCh38)
      1:2490305 (GRCh37)
      Canonical SPDI:
      NC_000001.11:2558865:C:T
      Gene:
      TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490640834 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        1:2556551 (GRCh38)
        1:2487990 (GRCh37)
        Canonical SPDI:
        NC_000001.11:2556550:C:A,NC_000001.11:2556550:C:G,NC_000001.11:2556550:C:T
        Gene:
        TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.00002/3 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.2556551C>A, NC_000001.11:g.2556551C>G, NC_000001.11:g.2556551C>T, NC_000001.10:g.2487990C>A, NC_000001.10:g.2487990C>G, NC_000001.10:g.2487990C>T, NG_047096.1:g.5187C>A, NG_047096.1:g.5187C>G, NG_047096.1:g.5187C>T, NM_003820.4:c.-114C>A, NM_003820.4:c.-114C>G, NM_003820.4:c.-114C>T, NM_003820.3:c.-114C>A, NM_003820.3:c.-114C>G, NM_003820.3:c.-114C>T, NM_003820.2:c.-114C>A, NM_003820.2:c.-114C>G, NM_003820.2:c.-114C>T, NM_001297605.2:c.-114C>A, NM_001297605.2:c.-114C>G, NM_001297605.2:c.-114C>T, NM_001297605.1:c.-114C>A, NM_001297605.1:c.-114C>G, NM_001297605.1:c.-114C>T, NT_187515.1:g.107741C>A, NT_187515.1:g.107741C>G, NT_187515.1:g.107741C>T, XM_006711019.3:c.-114C>A, XM_006711019.3:c.-114C>G, XM_006711019.3:c.-114C>T, NR_037844.2:n.181G>T, NR_037844.2:n.181G>C, NR_037844.2:n.181G>A, NR_037844.1:n.181G>T, NR_037844.1:n.181G>C, NR_037844.1:n.181G>A, XM_047433423.1:c.-114C>A, XM_047433423.1:c.-114C>G, XM_047433423.1:c.-114C>T, XM_047433421.1:c.-114C>A, XM_047433421.1:c.-114C>G, XM_047433421.1:c.-114C>T
        4.

        rs1490503926 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          1:2553844 (GRCh38)
          1:2485283 (GRCh37)
          Canonical SPDI:
          NC_000001.11:2553843:T:G
          Gene:
          TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490330652 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:2559446 (GRCh38)
            1:2490885 (GRCh37)
            Canonical SPDI:
            NC_000001.11:2559445:G:A
            Gene:
            TNFRSF14 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            A=0.000007/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1490325847 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:2558316 (GRCh38)
              1:2489755 (GRCh37)
              Canonical SPDI:
              NC_000001.11:2558315:G:A
              Gene:
              TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1490099243 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:2559032 (GRCh38)
                1:2490471 (GRCh37)
                Canonical SPDI:
                NC_000001.11:2559031:C:T
                Gene:
                TNFRSF14 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_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:
                8.

                rs1489913488 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:2564492 (GRCh38)
                  1:2495931 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:2564491:C:A
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000019/5 (TOPMED)
                  A=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1489894451 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:2565414 (GRCh38)
                    1:2496853 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:2565413:G:A
                    Gene:
                    LOC100996583 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    A=0.000071/1 (TOMMO)
                    HGVS:
                    10.

                    rs1489849219 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      1:2559076 (GRCh38)
                      1:2490516 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:2559076:CC:CCC
                      Gene:
                      TNFRSF14 (Varview)
                      Functional Consequence:
                      frameshift_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCC=0./0 (ALFA)
                      C=0.000008/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      C=0.000071/1 (TOMMO)
                      HGVS:
                      11.

                      rs1489823550 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:2556762 (GRCh38)
                        1:2488201 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:2556761:C:T
                        Gene:
                        TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        HGVS:
                        12.

                        rs1489247368 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:2559705 (GRCh38)
                          1:2491144 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:2559704:G:C
                          Gene:
                          TNFRSF14 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1488933073 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:2554760 (GRCh38)
                            1:2486199 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:2554759:C:T
                            Gene:
                            TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,upstream_transcript_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:
                            14.

                            rs1488779189 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:2556306 (GRCh38)
                              1:2487745 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:2556305:G:A
                              Gene:
                              TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.00003/8 (TOPMED)
                              A=0.000071/10 (GnomAD)
                              HGVS:
                              15.

                              rs1488456574 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:2561099 (GRCh38)
                                1:2492538 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:2561098:T:C
                                Gene:
                                TNFRSF14 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1487851912 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:2558125 (GRCh38)
                                  1:2489564 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:2558124:T:C
                                  Gene:
                                  TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1487613627 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:2561660 (GRCh38)
                                    1:2493099 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:2561659:C:T
                                    Gene:
                                    TNFRSF14 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    20.

                                    rs1487422040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:2556237 (GRCh38)
                                      1:2487676 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:2556236:G:A,NC_000001.11:2556236:G:T
                                      Gene:
                                      TNFRSF14 (Varview), TNFRSF14-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000057/15 (TOPMED)
                                      A=0.000064/9 (GnomAD)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:

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