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Links from Gene

Items: 1 to 20 of 2572

1.

rs1491131601 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    16:57248696 (GRCh38)
    16:57282608 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57248694:AAA:A
    Gene:
    ARL2BP (Varview), LOC124903697 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000009/1 (ExAC)
    HGVS:
    2.

    rs1490780725 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      16:57245694 (GRCh38)
      16:57279606 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57245693:G:A,NC_000016.10:57245693:G:T
      Gene:
      ARL2BP (Varview), LOC124903697 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490764206 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        16:57246727 (GRCh38)
        16:57280639 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57246726:C:G,NC_000016.10:57246726:C:T
        Gene:
        ARL2BP (Varview), LOC124903697 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1489780645 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:57247971 (GRCh38)
          16:57281883 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57247970:C:T
          Gene:
          ARL2BP (Varview), LOC124903697 (Varview)
          Functional Consequence:
          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:
          5.

          rs1489453519 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAGAAA>- [Show Flanks]
            Chromosome:
            16:57248329 (GRCh38)
            16:57282241 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57248325:AAAAAAAAAAAGAAA:AAA
            Gene:
            ARL2BP (Varview), LOC124903697 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAA=0./0 (ALFA)
            -=0.000051/7 (GnomAD)
            -=0.001638/3 (Korea1K)
            -=0.004609/77 (TOMMO)
            HGVS:
            6.

            rs1489403870 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              16:57248074 (GRCh38)
              16:57281986 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57248073:G:A,NC_000016.10:57248073:G:T
              Gene:
              ARL2BP (Varview), LOC124903697 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489351857 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:57249481 (GRCh38)
                16:57283393 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57249480:C:T
                Gene:
                ARL2BP (Varview), LOC124903697 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000021/3 (GnomAD)
                T=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1488559013 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  16:57245973 (GRCh38)
                  16:57279885 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57245972:C:G,NC_000016.10:57245972:C:T
                  Gene:
                  ARL2BP (Varview), LOC124903697 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488081676 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:57253855 (GRCh38)
                    16:57287767 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57253854:G:A
                    Gene:
                    ARL2BP (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1487800483 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:57248916 (GRCh38)
                      16:57282828 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57248915:A:G
                      Gene:
                      ARL2BP (Varview), LOC124903697 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487480595 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        16:57250038 (GRCh38)
                        16:57283950 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57250034:TGTGT:TGT
                        Gene:
                        ARL2BP (Varview), LOC124903697 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGT=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        -=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1487472253 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          16:57249465 (GRCh38)
                          16:57283377 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57249464:C:A,NC_000016.10:57249464:C:G
                          Gene:
                          ARL2BP (Varview), LOC124903697 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1487061784 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:57247249 (GRCh38)
                            16:57281161 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57247248:T:G
                            Gene:
                            ARL2BP (Varview), LOC124903697 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1486858596 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              16:57250688 (GRCh38)
                              16:57284600 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57250687:C:G
                              Gene:
                              ARL2BP (Varview), LOC124903697 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000038/10 (TOPMED)
                              HGVS:
                              15.

                              rs1486843079 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:57243553 (GRCh38)
                                16:57277465 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57243552:C:A
                                Gene:
                                ARL2BP (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486739847 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:57245339 (GRCh38)
                                  16:57279251 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57245338:G:A
                                  Gene:
                                  ARL2BP (Varview), LOC124903697 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000005/1 (GnomAD_exomes)
                                  A=0.000071/2 (TOMMO)
                                  A=0.000561/1 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1486602762 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    16:57244170 (GRCh38)
                                    16:57278082 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57244169:A:C
                                    Gene:
                                    ARL2BP (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486407685 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ATTA>- [Show Flanks]
                                      Chromosome:
                                      16:57243928 (GRCh38)
                                      16:57277840 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57243926:AATTA:A
                                      Gene:
                                      ARL2BP (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486361831 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        16:57252836 (GRCh38)
                                        16:57286748 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57252835:T:C,NC_000016.10:57252835:T:G
                                        Gene:
                                        ARL2BP (Varview), LOC124903697 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486154217 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          16:57243442 (GRCh38)
                                          16:57277354 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57243441:T:A
                                          Gene:
                                          ARL2BP (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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