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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490661203 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:79139949 (GRCh38)
    2:79367075 (GRCh37)
    Canonical SPDI:
    NC_000002.12:79139948:A:G
    Gene:
    REG1CP (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1489462348 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:79139732 (GRCh38)
      2:79366858 (GRCh37)
      Canonical SPDI:
      NC_000002.12:79139731:A:G
      Gene:
      REG1CP (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000054/1 (ALFA)
      G=0.000019/5 (TOPMED)
      G=0.000021/3 (GnomAD)
      G=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1489277996 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        2:79137578 (GRCh38)
        2:79364704 (GRCh37)
        Canonical SPDI:
        NC_000002.12:79137577:G:A,NC_000002.12:79137577:G:C
        Gene:
        REG1CP (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1488092722 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          2:79136663 (GRCh38)
          2:79363789 (GRCh37)
          Canonical SPDI:
          NC_000002.12:79136662:C:A
          Gene:
          REG1CP (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1488062210 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:79138941 (GRCh38)
            2:79366067 (GRCh37)
            Canonical SPDI:
            NC_000002.12:79138940:A:G
            Gene:
            REG1CP (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487469255 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              2:79136890 (GRCh38)
              2:79364016 (GRCh37)
              Canonical SPDI:
              NC_000002.12:79136889:G:A,NC_000002.12:79136889:G:C
              Gene:
              REG1CP (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.00034/1 (KOREAN)
              HGVS:
              7.

              rs1487083581 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:79137960 (GRCh38)
                2:79365086 (GRCh37)
                Canonical SPDI:
                NC_000002.12:79137959:A:G
                Gene:
                REG1CP (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000142/2 (ALFA)
                G=0.000021/3 (GnomAD)
                G=0.000034/9 (TOPMED)
                HGVS:
                8.

                rs1485801220 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:79135701 (GRCh38)
                  2:79362827 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:79135700:A:G
                  Gene:
                  REG1CP (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1484704939 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:79138541 (GRCh38)
                    2:79365667 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:79138540:C:T
                    Gene:
                    REG1CP (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1484493238 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:79137410 (GRCh38)
                      2:79364536 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:79137409:C:T
                      Gene:
                      REG1CP (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1482310474 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:79136465 (GRCh38)
                        2:79363591 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:79136464:C:G
                        Gene:
                        REG1CP (Varview)
                        Functional Consequence:
                        non_coding_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:
                        12.

                        rs1481285881 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:79136723 (GRCh38)
                          2:79363849 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:79136722:T:C
                          Gene:
                          REG1CP (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1481049178 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:79140052 (GRCh38)
                            2:79367178 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:79140051:T:C
                            Gene:
                            REG1CP (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1480771619 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:79136789 (GRCh38)
                              2:79363915 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:79136788:T:C
                              Gene:
                              REG1CP (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1480396632 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:79140169 (GRCh38)
                                2:79367295 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:79140168:C:T
                                Gene:
                                REG1CP (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000021/3 (GnomAD)
                                T=0.000023/6 (TOPMED)
                                HGVS:
                                16.

                                rs1480306666 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:79135825 (GRCh38)
                                  2:79362951 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:79135824:G:A
                                  Gene:
                                  REG1CP (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000224/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1478498436 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:79139120 (GRCh38)
                                    2:79366246 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:79139119:G:A
                                    Gene:
                                    REG1CP (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478238262 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      2:79135449 (GRCh38)
                                      2:79362575 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:79135448:A:C,NC_000002.12:79135448:A:G
                                      Gene:
                                      REG1CP (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1478147710 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:79138569 (GRCh38)
                                        2:79365695 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:79138568:T:C
                                        Gene:
                                        REG1CP (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477724107 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          2:79140043 (GRCh38)
                                          2:79367169 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:79140042:G:T
                                          Gene:
                                          REG1CP (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=0.000036/5 (GnomAD)
                                          HGVS:

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