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Links from Nucleotide

Items: 1 to 20 of 136

1.

rs1484740961 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    1:81515107 (GRCh38)
    1:81980792 (GRCh37)
    Canonical SPDI:
    NC_000001.11:81515106:G:T
    Gene:
    ADGRL2 (Varview), LOC101927434 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000015/4 (TOPMED)
    T=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1480152982 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:81515128 (GRCh38)
      1:81980813 (GRCh37)
      Canonical SPDI:
      NC_000001.11:81515127:A:G
      Gene:
      ADGRL2 (Varview), LOC101927434 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000019/5 (TOPMED)
      G=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1476201505 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        1:81513888 (GRCh38)
        1:81979573 (GRCh37)
        Canonical SPDI:
        NC_000001.11:81513887:T:A
        Gene:
        ADGRL2 (Varview), LOC101927434 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,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:
        4.

        rs1476071954 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          1:81515002 (GRCh38)
          1:81980687 (GRCh37)
          Canonical SPDI:
          NC_000001.11:81515001:G:
          Gene:
          ADGRL2 (Varview), LOC101927434 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1474176869 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:81515111 (GRCh38)
            1:81980796 (GRCh37)
            Canonical SPDI:
            NC_000001.11:81515110:G:A,NC_000001.11:81515110:G:T
            Gene:
            ADGRL2 (Varview), LOC101927434 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1471485500 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:81513979 (GRCh38)
              1:81979664 (GRCh37)
              Canonical SPDI:
              NC_000001.11:81513978:C:G
              Gene:
              ADGRL2 (Varview), LOC101927434 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1462521453 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                1:81514948 (GRCh38)
                1:81980633 (GRCh37)
                Canonical SPDI:
                NC_000001.11:81514947:A:T
                Gene:
                ADGRL2 (Varview), LOC101927434 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1459908314 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:81513942 (GRCh38)
                  1:81979627 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:81513941:A:G
                  Gene:
                  ADGRL2 (Varview), LOC101927434 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000023/6 (TOPMED)
                  G=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1456827334 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:81514669 (GRCh38)
                    1:81980354 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:81514668:T:G
                    Gene:
                    ADGRL2 (Varview), LOC101927434 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    HGVS:
                    10.

                    rs1453778880 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:81514843 (GRCh38)
                      1:81980528 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:81514842:C:T
                      Gene:
                      ADGRL2 (Varview), LOC101927434 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1440403043 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CTT>- [Show Flanks]
                        Chromosome:
                        1:81514692 (GRCh38)
                        1:81980377 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:81514688:CTTCTT:CTT
                        Gene:
                        ADGRL2 (Varview), LOC101927434 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CTTCTT=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1438644789 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:81515147 (GRCh38)
                          1:81980832 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:81515146:A:G
                          Gene:
                          ADGRL2 (Varview), LOC101927434 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000049/13 (TOPMED)
                          HGVS:
                          13.

                          rs1414664033 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:81514986 (GRCh38)
                            1:81980671 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:81514985:G:A
                            Gene:
                            ADGRL2 (Varview), LOC101927434 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1409708197 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:81514045 (GRCh38)
                              1:81979730 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:81514044:G:T
                              Gene:
                              ADGRL2 (Varview), LOC101927434 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1402928476 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:81514842 (GRCh38)
                                1:81980527 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:81514841:G:A,NC_000001.11:81514841:G:T
                                Gene:
                                ADGRL2 (Varview), LOC101927434 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_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:
                                16.

                                rs1397284523 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATGCCTGATGACAT>- [Show Flanks]
                                  Chromosome:
                                  1:81514870 (GRCh38)
                                  1:81980555 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:81514866:CATATGCCTGATGACAT:CAT
                                  Gene:
                                  ADGRL2 (Varview), LOC101927434 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CAT=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1390736865 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:81514655 (GRCh38)
                                    1:81980340 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:81514654:A:G
                                    Gene:
                                    ADGRL2 (Varview), LOC101927434 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1390139111 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:81557678 (GRCh38)
                                      1:82023363 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:81557677:A:G
                                      Gene:
                                      ADGRL2 (Varview), LOC101927434 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000021/3 (GnomAD)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1371771458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        1:81513920 (GRCh38)
                                        1:81979605 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:81513919:C:A,NC_000001.11:81513919:C:G,NC_000001.11:81513919:C:T
                                        Gene:
                                        ADGRL2 (Varview), LOC101927434 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1368705190 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:81514941 (GRCh38)
                                          1:81980626 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:81514940:A:G
                                          Gene:
                                          ADGRL2 (Varview), LOC101927434 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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