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Items: 1 to 20 of 3378

1.

rs1490987477 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:167541079 (GRCh38)
    1:167510316 (GRCh37)
    Canonical SPDI:
    NC_000001.11:167541078:A:G
    Gene:
    CREG1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000019/5 (TOPMED)
    G=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1490806424 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:167549809 (GRCh38)
      1:167519046 (GRCh37)
      Canonical SPDI:
      NC_000001.11:167549808:T:C
      Gene:
      CREG1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490689541 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        1:167550965 (GRCh38)
        1:167520202 (GRCh37)
        Canonical SPDI:
        NC_000001.11:167550964:A:C
        Gene:
        CREG1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490525980 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          1:167541954 (GRCh38)
          1:167511191 (GRCh37)
          Canonical SPDI:
          NC_000001.11:167541953:C:G,NC_000001.11:167541953:C:T
          Gene:
          CREG1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1490338118 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:167551572 (GRCh38)
            1:167520809 (GRCh37)
            Canonical SPDI:
            NC_000001.11:167551571:G:A
            Gene:
            CREG1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490312070 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:167550284 (GRCh38)
              1:167519521 (GRCh37)
              Canonical SPDI:
              NC_000001.11:167550283:C:G,NC_000001.11:167550283:C:T
              Gene:
              CREG1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000015/4 (TOPMED)
              T=0.000685/2 (KOREAN)
              T=0.001638/3 (Korea1K)
              HGVS:
              7.

              rs1490086514 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                1:167543371 (GRCh38)
                1:167512608 (GRCh37)
                Canonical SPDI:
                NC_000001.11:167543370:C:A,NC_000001.11:167543370:C:G,NC_000001.11:167543370:C:T
                Gene:
                CREG1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1489843417 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:167553452 (GRCh38)
                  1:167522689 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:167553451:C:A
                  Gene:
                  CREG1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  9.

                  rs1489428829 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:167543747 (GRCh38)
                    1:167512984 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:167543746:G:A
                    Gene:
                    CREG1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489275245 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:167553147 (GRCh38)
                      1:167522384 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:167553146:G:A
                      Gene:
                      CREG1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489128906 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:167540763 (GRCh38)
                        1:167510000 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:167540762:A:G
                        Gene:
                        CREG1 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_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.

                        rs1489046707 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:167547947 (GRCh38)
                          1:167517184 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:167547946:T:C
                          Gene:
                          CREG1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1488724320 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            1:167549020 (GRCh38)
                            1:167518257 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:167549019:A:C,NC_000001.11:167549019:A:G
                            Gene:
                            CREG1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000066/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            C=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1488703808 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTCT>- [Show Flanks]
                              Chromosome:
                              1:167545008 (GRCh38)
                              1:167514245 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:167545005:CTTTCT:CT
                              Gene:
                              CREG1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CT=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1488692839 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:167554819 (GRCh38)
                                1:167524056 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:167554818:T:C
                                Gene:
                                CREG1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000021/3 (GnomAD)
                                C=0.000045/12 (TOPMED)
                                C=0.000319/5 (TOMMO)
                                C=0.000684/2 (KOREAN)
                                HGVS:
                                16.

                                rs1488652249 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->CCTCAAA [Show Flanks]
                                  Chromosome:
                                  1:167543874 (GRCh38)
                                  1:167513112 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:167543874:AACCTCAAA:AACCTCAAACCTCAAA
                                  Gene:
                                  CREG1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AACCTCAAACCTCAAA=0./0 (ALFA)
                                  AACCTCA=0.000011/3 (TOPMED)
                                  AACCTCA=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488607643 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:167553347 (GRCh38)
                                    1:167522584 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:167553346:C:A
                                    Gene:
                                    CREG1 (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:
                                    18.

                                    rs1488578671 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:167548205 (GRCh38)
                                      1:167517442 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:167548204:C:G
                                      Gene:
                                      CREG1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488468019 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:167546619 (GRCh38)
                                        1:167515856 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:167546618:A:G
                                        Gene:
                                        CREG1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488446661 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:167544211 (GRCh38)
                                          1:167513448 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:167544210:C:T
                                          Gene:
                                          CREG1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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