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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1491290080 has merged into rs1382033089 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CG>-,CGCG [Show Flanks]
    Chromosome:
    17:79736536 (GRCh38)
    17:77710335 (GRCh37)
    Canonical SPDI:
    NC_000017.11:79736534:GCG:G,NC_000017.11:79736534:GCG:GCGCG
    Gene:
    ENPP7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GCGCG=0./0 (ALFA)
    HGVS:
    2.

    rs1491206962 has merged into rs1260417941 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
      Chromosome:
      17:79732147 (GRCh38)
      17:13 (GRCh37)
      Canonical SPDI:
      NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000017.11:79732132:TATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA
      Gene:
      ENPP7 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATATATA=0./0 (ALFA)
      HGVS:
      3.

      rs1491155494 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CATATATACACACATA,CATATATACACATA,CATATATACACATATATATATATACACATATATACACATA,CATATATACACATATATATATATATATATACATATATACACATA,CATATATACATA [Show Flanks]
        Chromosome:
        17:79732133 (GRCh38)
        17:77705896 (GRCh37)
        Canonical SPDI:
        NC_000017.11:79732133:ATA:ATACATATATACACACATA,NC_000017.11:79732133:ATA:ATACATATATACACATA,NC_000017.11:79732133:ATA:ATACATATATACACATATATATATATACACATATATACACATA,NC_000017.11:79732133:ATA:ATACATATATACACATATATATATATATATATACATATATACACATA,NC_000017.11:79732133:ATA:ATACATATATACATA
        Gene:
        ENPP7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATACATATATACATA=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.79732136_79732137insCATATATACACACATA, NC_000017.11:g.79732136_79732137insCATATATACACATA, NC_000017.11:g.79732136_79732137insCATATATACACATATATATATATACACATATATACACATA, NC_000017.11:g.79732136_79732137insCATATATACACATATATATATATATATATACATATATACACATA, NC_000017.11:g.79732136_79732137insCATATATACATA, NW_003871089.1:g.316142_316143insCATATATACACACATA, NW_003871089.1:g.316142_316143insCATATATACACATA, NW_003871089.1:g.316142_316143insCATATATACACATATATATATATACACATATATACACATA, NW_003871089.1:g.316142_316143insCATATATACACATATATATATATATATATACATATATACACATA, NW_003871089.1:g.316142_316143insCATATATACATA, NG_051988.1:g.6218_6219insCATATATACACACATA, NG_051988.1:g.6218_6219insCATATATACACATA, NG_051988.1:g.6218_6219insCATATATACACATATATATATATACACATATATACACATA, NG_051988.1:g.6218_6219insCATATATACACATATATATATATATATATACATATATACACATA, NG_051988.1:g.6218_6219insCATATATACATA, NC_000017.10:g.77705910_77705911insCATACATATATACACA, NC_000017.10:g.77705899_77705912dup, NC_000017.10:g.77705922_77705923insCACATATATACACATACATATATACACATATATATATATA, NC_000017.10:g.77705928_77705929insCATATATACACATACATATATACACATATATATATATATATATA, NC_000017.10:g.77705897_77705908dup
        4.

        rs1491039373 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CA [Show Flanks]
          Chromosome:
          17:79732167 (GRCh38)
          17:77705966 (GRCh37)
          Canonical SPDI:
          NC_000017.11:79732167:A:ACA
          Gene:
          ENPP7 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACA=0./0 (ALFA)
          AC=0.000036/4 (GnomAD)
          AC=0.000886/25 (TOMMO)
          HGVS:
          5.

          rs1490901920 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:79735459 (GRCh38)
            17:77709258 (GRCh37)
            Canonical SPDI:
            NC_000017.11:79735458:C:T
            Gene:
            ENPP7 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_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:
            6.

            rs1490701697 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:79742746 (GRCh38)
              17:77716545 (GRCh37)
              Canonical SPDI:
              NC_000017.11:79742745:C:T
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490677828 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:79741944 (GRCh38)
                17:77715743 (GRCh37)
                Canonical SPDI:
                NC_000017.11:79741943:T:C
                Gene:
                ENPP7 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1490657670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:79729848 (GRCh38)
                  17:77703610 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:79729847:G:A
                  Gene:
                  ENPP7 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000142/2 (ALFA)
                  A=0.000036/5 (GnomAD)
                  A=0.000045/12 (TOPMED)
                  A=0.000071/1 (TOMMO)
                  HGVS:
                  9.

                  rs1490642687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:79728858 (GRCh38)
                    17:77702620 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:79728857:A:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1490458658 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:79735803 (GRCh38)
                      17:77709602 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:79735802:C:T
                      Gene:
                      ENPP7 (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1490339268 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:79730635 (GRCh38)
                        17:77704397 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:79730634:C:A
                        Gene:
                        ENPP7 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1490150410 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:79737333 (GRCh38)
                          17:77711132 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:79737332:C:T
                          Gene:
                          ENPP7 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1490134098 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CG [Show Flanks]
                            Chromosome:
                            17:79736538 (GRCh38)
                            17:77710338 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:79736538:G:GCG
                            Gene:
                            ENPP7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCG=0./0 (ALFA)
                            GC=0.000004/1 (TOPMED)
                            GC=0.000025/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489909009 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              17:79743226 (GRCh38)
                              17:77717025 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:79743225:CCC:CC
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1489891072 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                17:79731061 (GRCh38)
                                17:77704823 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:79731060:G:A,NC_000017.11:79731060:G:T
                                Gene:
                                ENPP7 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489878515 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:79742212 (GRCh38)
                                  17:77716011 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:79742211:G:A
                                  Gene:
                                  ENPP7 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000026/7 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489840425 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:79730248 (GRCh38)
                                    17:77704010 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:79730247:A:G
                                    Gene:
                                    ENPP7 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489368191 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:79744125 (GRCh38)
                                      17:77717924 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:79744124:C:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489351884 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:79731858 (GRCh38)
                                        17:77705620 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:79731857:G:A
                                        Gene:
                                        ENPP7 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489249745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          17:79731051 (GRCh38)
                                          17:77704813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:79731050:G:T
                                          Gene:
                                          ENPP7 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          T=0.00003/8 (TOPMED)
                                          HGVS:

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