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Items: 1 to 20 of 677

1.

rs1489029850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    7:985316 (GRCh38)
    7:1024952 (GRCh37)
    Canonical SPDI:
    NC_000007.14:985315:G:T
    Gene:
    CYP2W1 (Varview), C7orf50 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.00005/1 (ALFA)
    HGVS:
    2.

    rs1486813484 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:983259 (GRCh38)
      7:1022895 (GRCh37)
      Canonical SPDI:
      NC_000007.14:983258:G:A
      Gene:
      CYP2W1 (Varview), C7orf50 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1484106261 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        7:988808 (GRCh38)
        7:1028444 (GRCh37)
        Canonical SPDI:
        NC_000007.14:988807:G:T
        Gene:
        CYP2W1 (Varview), C7orf50 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        HGVS:
        4.

        rs1482610047 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:984474 (GRCh38)
          7:1024110 (GRCh37)
          Canonical SPDI:
          NC_000007.14:984473:G:A
          Gene:
          CYP2W1 (Varview), C7orf50 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1481843046 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:987181 (GRCh38)
            7:1026817 (GRCh37)
            Canonical SPDI:
            NC_000007.14:987180:G:A
            Gene:
            CYP2W1 (Varview), C7orf50 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000057/2 (ALFA)
            A=0.000034/9 (TOPMED)
            A=0.000043/6 (GnomAD)
            HGVS:
            7.

            rs1476935111 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:983321 (GRCh38)
              7:1022957 (GRCh37)
              Canonical SPDI:
              NC_000007.14:983320:C:T
              Gene:
              CYP2W1 (Varview), C7orf50 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000031/1 (ALFA)
              T=0.000015/4 (TOPMED)
              T=0.000021/3 (GnomAD_exomes)
              T=0.000035/1 (TOMMO)
              HGVS:
              8.

              rs1475944373 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:987452 (GRCh38)
                7:1027088 (GRCh37)
                Canonical SPDI:
                NC_000007.14:987451:A:G
                Gene:
                CYP2W1 (Varview), C7orf50 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0./0 (Korea1K)
                G=0.000005/1 (GnomAD_exomes)
                G=0.000035/1 (TOMMO)
                G=0.000342/1 (KOREAN)
                HGVS:
                9.

                rs1472806365 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:985317 (GRCh38)
                  7:1024953 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:985316:C:T
                  Gene:
                  CYP2W1 (Varview), C7orf50 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000028/1 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  10.

                  rs1471877227 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:988708 (GRCh38)
                    7:1028344 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:988707:G:A
                    Gene:
                    CYP2W1 (Varview), C7orf50 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,splice_donor_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    11.

                    rs1470357892 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      7:987147 (GRCh38)
                      7:1026783 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:987146:T:G
                      Gene:
                      CYP2W1 (Varview), C7orf50 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                      HGVS:
                      12.

                      rs1469355860 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        7:986693 (GRCh38)
                        7:1026329 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:986692:G:C
                        Gene:
                        CYP2W1 (Varview), C7orf50 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000047/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1469152047 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          7:987393 (GRCh38)
                          7:1027029 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:987392:T:A
                          Gene:
                          CYP2W1 (Varview), C7orf50 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1469097206 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:987157 (GRCh38)
                            7:1026793 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:987156:C:T
                            Gene:
                            CYP2W1 (Varview), C7orf50 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000005/1 (GnomAD_exomes)
                            T=0.000019/5 (TOPMED)
                            HGVS:
                            15.

                            rs1467524480 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              7:987505 (GRCh38)
                              7:1027141 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:987499:ACACACA:ACACA
                              Gene:
                              CYP2W1 (Varview), C7orf50 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACA=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              -=0.000014/2 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1466788149 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:984443 (GRCh38)
                                7:1024079 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:984442:T:C
                                Gene:
                                CYP2W1 (Varview), C7orf50 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000047/1 (ALFA)
                                C=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                18.

                                rs1465199711 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->AGCTCCCCCAGCCCCCAGG [Show Flanks]
                                  Chromosome:
                                  7:988820 (GRCh38)
                                  7:1028457 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:988820:AGGAGCTCCCCCAGCCCCCAGG:AGGAGCTCCCCCAGCCCCCAGGAGCTCCCCCAGCCCCCAGG
                                  Gene:
                                  CYP2W1 (Varview), C7orf50 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,terminator_codon_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  AGGAGCTCCCCCAGCCCCC=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  19.

                                  rs1464742979 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:988746 (GRCh38)
                                    7:1028382 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:988745:C:T
                                    Gene:
                                    CYP2W1 (Varview), C7orf50 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1464163691 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:984536 (GRCh38)
                                      7:1024172 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:984535:C:T
                                      Gene:
                                      CYP2W1 (Varview), C7orf50 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                      HGVS:

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