U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 228

1.

rs1484885229 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    X:49162911 (GRCh38)
    X:49019249 (GRCh37)
    Canonical SPDI:
    NC_000023.11:49162910:G:C
    Gene:
    MAGIX (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000356/5 (ALFA)
    C=0.000314/83 (TOPMED)
    C=0.000408/43 (GnomAD)
    HGVS:
    3.

    rs1453849635 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      X:49163786 (GRCh38)
      X:49020124 (GRCh37)
      Canonical SPDI:
      NC_000023.11:49163785:G:T
      Gene:
      MAGIX (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      5.

      rs1448244397 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:49166271 (GRCh38)
        X:49022610 (GRCh37)
        Canonical SPDI:
        NC_000023.11:49166270:A:G
        Gene:
        MAGIX (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD_exomes)
        G=0.000011/3 (TOPMED)
        HGVS:
        7.

        rs1435795021 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:49164926 (GRCh38)
          X:49021264 (GRCh37)
          Canonical SPDI:
          NC_000023.11:49164925:C:T
          Gene:
          MAGIX (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          T=0.00001/1 (GnomAD)
          HGVS:
          9.

          rs1423092246 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:49165062 (GRCh38)
            X:49021400 (GRCh37)
            Canonical SPDI:
            NC_000023.11:49165061:G:A
            Gene:
            MAGIX (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000019/2 (GnomAD)
            A=0.000023/6 (TOPMED)
            HGVS:
            10.
            11.

            rs1413106032 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:49165246 (GRCh38)
              X:49021584 (GRCh37)
              Canonical SPDI:
              NC_000023.11:49165245:C:T
              Gene:
              MAGIX (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              12.

              rs1406852347 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                X:49164938 (GRCh38)
                X:49021276 (GRCh37)
                Canonical SPDI:
                NC_000023.11:49164937:C:G
                Gene:
                MAGIX (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                13.

                rs1393355616 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  X:49163871 (GRCh38)
                  X:49020209 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:49163870:C:A
                  Gene:
                  MAGIX (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.00001/1 (GnomAD)
                  HGVS:
                  14.

                  rs1391116450 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    X:49164957 (GRCh38)
                    X:49021295 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:49164953:TCTCT:TCT
                    Gene:
                    MAGIX (Varview)
                    Functional Consequence:
                    frameshift_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TCT=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    15.

                    rs1389695304 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:49166218 (GRCh38)
                      X:49022557 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:49166217:C:T
                      Gene:
                      MAGIX (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000019/2 (GnomAD)
                      HGVS:
                      16.

                      rs1382553637 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:49166216 (GRCh38)
                        X:49022555 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:49166215:G:A
                        Gene:
                        MAGIX (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.00001/1 (GnomAD)
                        HGVS:
                        17.

                        rs1372695225 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          X:49163822 (GRCh38)
                          X:49020160 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:49163821:A:C
                          Gene:
                          MAGIX (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000054/1 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          18.

                          rs1372642684 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            X:49165048 (GRCh38)
                            X:49021386 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:49165047:G:A,NC_000023.11:49165047:G:C
                            Gene:
                            MAGIX (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            C=0.000006/1 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            HGVS:

                            Display Settings:

                            Format
                            Items per page
                            Sort by

                            Send to:

                            Choose Destination

                            Supplemental Content

                            Find related data

                            Recent activity

                            Your browsing activity is empty.

                            Activity recording is turned off.

                            Turn recording back on

                            See more...