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Links from Nucleotide

Items: 1 to 20 of 199

1.

rs1488191227 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:111503464 (GRCh38)
    6:111824667 (GRCh37)
    Canonical SPDI:
    NC_000006.12:111503463:G:A
    Gene:
    TRAF3IP2-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1487704100 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      6:111503312 (GRCh38)
      6:111824515 (GRCh37)
      Canonical SPDI:
      NC_000006.12:111503311:A:G,NC_000006.12:111503311:A:T
      Gene:
      TRAF3IP2-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000051/1 (ALFA)
      G=0.000015/2 (GnomAD_exomes)
      HGVS:
      3.

      rs1485799845 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:111484835 (GRCh38)
        6:111806038 (GRCh37)
        Canonical SPDI:
        NC_000006.12:111484834:C:T
        Gene:
        REV3L (Varview), TRAF3IP2-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1484169094 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          6:111483653 (GRCh38)
          6:111804856 (GRCh37)
          Canonical SPDI:
          NC_000006.12:111483652:G:A,NC_000006.12:111483652:G:T
          Gene:
          REV3L (Varview), TRAF3IP2-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1477895187 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>-,GG [Show Flanks]
            Chromosome:
            6:111483527 (GRCh38)
            6:111804730 (GRCh37)
            Canonical SPDI:
            NC_000006.12:111483526:GGGGGG:GGGGG,NC_000006.12:111483526:GGGGGG:GGGGGGG
            Gene:
            REV3L (Varview), TRAF3IP2-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGGGG=0./0 (ALFA)
            -=0.000009/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1476780449 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:111484789 (GRCh38)
              6:111805992 (GRCh37)
              Canonical SPDI:
              NC_000006.12:111484788:G:A
              Gene:
              REV3L (Varview), TRAF3IP2-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              A=0.000022/3 (GnomAD_exomes)
              HGVS:
              7.

              rs1473776680 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                6:111483505 (GRCh38)
                6:111804708 (GRCh37)
                Canonical SPDI:
                NC_000006.12:111483504:GGG:GG
                Gene:
                REV3L (Varview), TRAF3IP2-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GG=0./0 (ALFA)
                -=0.000068/18 (TOPMED)
                -=0.000082/11 (GnomAD)
                HGVS:
                8.

                rs1463817475 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:111483644 (GRCh38)
                  6:111804847 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:111483643:C:T
                  Gene:
                  REV3L (Varview), TRAF3IP2-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                  HGVS:
                  9.

                  rs1463494289 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:111484829 (GRCh38)
                    6:111806032 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:111484828:G:A
                    Gene:
                    REV3L (Varview), TRAF3IP2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1462426314 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      6:111483513 (GRCh38)
                      6:111804716 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:111483512:A:G,NC_000006.12:111483512:A:T
                      Gene:
                      REV3L (Varview), TRAF3IP2-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000085/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000008/1 (GnomAD)
                      T=0.000071/1 (TOMMO)
                      T=0.000566/1 (Korea1K)
                      G=0.020237/58 (KOREAN)
                      HGVS:
                      11.

                      rs1455962781 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        6:111503499 (GRCh38)
                        6:111824702 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:111503498:A:C
                        Gene:
                        TRAF3IP2-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1454753142 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          6:111483573 (GRCh38)
                          6:111804776 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:111483572:G:T
                          Gene:
                          REV3L (Varview), TRAF3IP2-AS1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,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:
                          13.

                          rs1454616520 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            6:111503516 (GRCh38)
                            6:111824720 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:111503516:T:TT
                            Gene:
                            TRAF3IP2-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TT=0.000224/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1450696311 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:111483516 (GRCh38)
                              6:111804719 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:111483515:G:A
                              Gene:
                              REV3L (Varview), TRAF3IP2-AS1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_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:
                              15.

                              rs1449740634 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:111503317 (GRCh38)
                                6:111824520 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:111503316:C:T
                                Gene:
                                TRAF3IP2-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_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:
                                16.

                                rs1439439690 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:111483598 (GRCh38)
                                  6:111804801 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:111483597:C:T
                                  Gene:
                                  REV3L (Varview), TRAF3IP2-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,splice_donor_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000017/2 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1435459181 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:111483524 (GRCh38)
                                    6:111804727 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:111483523:G:A
                                    Gene:
                                    REV3L (Varview), TRAF3IP2-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1433667535 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      6:111503594 (GRCh38)
                                      6:111824797 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:111503593:A:C
                                      Gene:
                                      TRAF3IP2-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000026/7 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1430487479 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        6:111483581 (GRCh38)
                                        6:111804784 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:111483580:T:A
                                        Gene:
                                        REV3L (Varview), TRAF3IP2-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1430421003 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:111483635 (GRCh38)
                                          6:111804838 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:111483634:G:A
                                          Gene:
                                          REV3L (Varview), TRAF3IP2-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000018/2 (GnomAD_exomes)
                                          HGVS:

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