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Links from Protein

Items: 1 to 20 of 262

1.

rs1487140356 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    19:39539768 (GRCh38)
    19:40030408 (GRCh37)
    Canonical SPDI:
    NC_000019.10:39539767:C:G,NC_000019.10:39539767:C:T
    Gene:
    EID2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1485790378 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      19:39539917 (GRCh38)
      19:40030557 (GRCh37)
      Canonical SPDI:
      NC_000019.10:39539916:C:G
      Gene:
      EID2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      3.

      rs1485225755 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:39540001 (GRCh38)
        19:40030641 (GRCh37)
        Canonical SPDI:
        NC_000019.10:39540000:C:T
        Gene:
        EID2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000005/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1482995992 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          19:39540041 (GRCh38)
          19:40030681 (GRCh37)
          Canonical SPDI:
          NC_000019.10:39540040:T:A
          Gene:
          EID2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1482888402 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:39539837 (GRCh38)
            19:40030477 (GRCh37)
            Canonical SPDI:
            NC_000019.10:39539836:C:T
            Gene:
            EID2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            HGVS:
            6.

            rs1482362233 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:39540054 (GRCh38)
              19:40030694 (GRCh37)
              Canonical SPDI:
              NC_000019.10:39540053:C:G
              Gene:
              EID2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_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.

              rs1482051554 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:39540071 (GRCh38)
                19:40030711 (GRCh37)
                Canonical SPDI:
                NC_000019.10:39540070:C:T
                Gene:
                EID2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000009/2 (GnomAD_exomes)
                HGVS:
                8.

                rs1481466555 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:39539935 (GRCh38)
                  19:40030575 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:39539934:C:T
                  Gene:
                  EID2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  9.

                  rs1477969675 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:39539548 (GRCh38)
                    19:40030188 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:39539547:G:A
                    Gene:
                    EID2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    10.

                    rs1476997343 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:39539868 (GRCh38)
                      19:40030508 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:39539867:G:A,NC_000019.10:39539867:G:C
                      Gene:
                      EID2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1476359575 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:39540076 (GRCh38)
                        19:40030716 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:39540075:A:G
                        Gene:
                        EID2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        12.

                        rs1473281896 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:39539723 (GRCh38)
                          19:40030363 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:39539722:C:T
                          Gene:
                          EID2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1473095060 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:39539427 (GRCh38)
                            19:40030067 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:39539426:T:C
                            Gene:
                            EID2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1468059012 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              19:39539563 (GRCh38)
                              19:40030203 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:39539562:C:G
                              Gene:
                              EID2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.0005/1 (Korea1K)
                              HGVS:
                              15.

                              rs1466564766 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:39539498 (GRCh38)
                                19:40030138 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:39539497:G:A
                                Gene:
                                EID2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1463919609 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:39539704 (GRCh38)
                                  19:40030344 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:39539703:T:C
                                  Gene:
                                  EID2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  17.

                                  rs1462453328 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    19:39539383 (GRCh38)
                                    19:40030023 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:39539382:T:A
                                    Gene:
                                    EID2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1449702870 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      19:39539800 (GRCh38)
                                      19:40030440 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:39539799:T:G
                                      Gene:
                                      EID2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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.

                                      rs1449284181 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        19:39539507 (GRCh38)
                                        19:40030147 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:39539506:C:A
                                        Gene:
                                        EID2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1447778803 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          19:39539968 (GRCh38)
                                          19:40030608 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:39539967:G:C
                                          Gene:
                                          EID2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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