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Items: 1 to 20 of 3056

1.

rs1490879078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:70407777 (GRCh38)
    4:71273494 (GRCh37)
    Canonical SPDI:
    NC_000004.12:70407776:C:T
    Gene:
    OPRPN (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490844170 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:70409019 (GRCh38)
      4:71274736 (GRCh37)
      Canonical SPDI:
      NC_000004.12:70409018:C:T
      Gene:
      OPRPN (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:
      3.

      rs1490700542 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:70400232 (GRCh38)
        4:71265949 (GRCh37)
        Canonical SPDI:
        NC_000004.12:70400231:T:C
        Gene:
        OPRPN (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000021/3 (GnomAD)
        C=0.000064/17 (TOPMED)
        C=0.000684/2 (KOREAN)
        C=0.000885/15 (TOMMO)
        C=0.001092/2 (Korea1K)
        HGVS:
        4.

        rs1489985658 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:70400297 (GRCh38)
          4:71266014 (GRCh37)
          Canonical SPDI:
          NC_000004.12:70400296:C:T
          Gene:
          OPRPN (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:
          5.

          rs1489415835 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            4:70402367 (GRCh38)
            4:71268084 (GRCh37)
            Canonical SPDI:
            NC_000004.12:70402366:T:G
            Gene:
            OPRPN (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1489404288 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              4:70406463 (GRCh38)
              4:71272180 (GRCh37)
              Canonical SPDI:
              NC_000004.12:70406462:T:G
              Gene:
              OPRPN (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489374062 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:70408848 (GRCh38)
                4:71274565 (GRCh37)
                Canonical SPDI:
                NC_000004.12:70408847:G:A
                Gene:
                OPRPN (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489314631 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:70407911 (GRCh38)
                  4:71273628 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:70407910:C:T
                  Gene:
                  OPRPN (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1489291415 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->AG [Show Flanks]
                    Chromosome:
                    4:70406642 (GRCh38)
                    4:71272360 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:70406642::AG
                    Gene:
                    OPRPN (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    AG=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1489252666 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AATT>- [Show Flanks]
                      Chromosome:
                      4:70405670 (GRCh38)
                      4:71271387 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:70405663:TTAATTAATT:TTAATT
                      Gene:
                      OPRPN (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTAATT=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489132132 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:70397963 (GRCh38)
                        4:71263680 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:70397962:T:C
                        Gene:
                        OPRPN (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1489088355 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:70409682 (GRCh38)
                          4:71275399 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:70409681:G:A
                          Gene:
                          OPRPN (Varview)
                          Functional Consequence:
                          synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.000016/4 (GnomAD_exomes)
                          A=0.000025/3 (ExAC)
                          A=0.00006/16 (TOPMED)
                          A=0.000342/1 (KOREAN)
                          A=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1488836883 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:70397525 (GRCh38)
                            4:71263242 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:70397524:C:T
                            Gene:
                            OPRPN (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000015/2 (GnomAD)
                            HGVS:
                            14.

                            rs1488679714 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              4:70408910 (GRCh38)
                              4:71274627 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:70408909:T:A
                              Gene:
                              OPRPN (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:
                              15.

                              rs1488478459 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:70400068 (GRCh38)
                                4:71265785 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:70400067:C:T
                                Gene:
                                OPRPN (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1488341920 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  4:70402939 (GRCh38)
                                  4:71268656 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:70402938:G:C
                                  Gene:
                                  OPRPN (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488310072 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:70405647 (GRCh38)
                                    4:71271364 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:70405646:C:T
                                    Gene:
                                    OPRPN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488254042 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      4:70397367 (GRCh38)
                                      4:71263084 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:70397366:T:A,NC_000004.12:70397366:T:C
                                      Gene:
                                      OPRPN (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0./0 (GnomAD)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488115265 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        4:70410070 (GRCh38)
                                        4:71275787 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:70410069:GG:G
                                        Gene:
                                        OPRPN (Varview)
                                        Functional Consequence:
                                        frameshift_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GG=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487968715 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          4:70407024 (GRCh38)
                                          4:71272741 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:70407023:CCC:CC
                                          Gene:
                                          OPRPN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CC=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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