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Links from Protein

Items: 1 to 20 of 1611

1.

rs1490145732 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    19:1109754 (GRCh38)
    19:1109753 (GRCh37)
    Canonical SPDI:
    NC_000019.10:1109753:T:A
    Gene:
    SBNO2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489729653 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:1108940 (GRCh38)
      19:1108939 (GRCh37)
      Canonical SPDI:
      NC_000019.10:1108939:C:T
      Gene:
      SBNO2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000006/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1489390971 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:1112291 (GRCh38)
        19:1112290 (GRCh37)
        Canonical SPDI:
        NC_000019.10:1112290:G:A
        Gene:
        SBNO2 (Varview)
        Functional Consequence:
        synonymous_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000051/1 (ALFA)
        A=0./0 (GnomAD)
        A=0.000015/3 (GnomAD_exomes)
        HGVS:
        4.

        rs1488926304 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          19:1122686 (GRCh38)
          19:1122685 (GRCh37)
          Canonical SPDI:
          NC_000019.10:1122685:G:T
          Gene:
          SBNO2 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000111/1 (ALFA)
          T=0.000008/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1488160736 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:1113686 (GRCh38)
            19:1113685 (GRCh37)
            Canonical SPDI:
            NC_000019.10:1113685:T:C
            Gene:
            SBNO2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487251729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:1109397 (GRCh38)
              19:1109396 (GRCh37)
              Canonical SPDI:
              NC_000019.10:1109396:C:G
              Gene:
              SBNO2 (Varview)
              Functional Consequence:
              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000006/1 (GnomAD_exomes)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1487188295 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:1116021 (GRCh38)
                19:1116020 (GRCh37)
                Canonical SPDI:
                NC_000019.10:1116020:G:A
                Gene:
                SBNO2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000019/5 (TOPMED)
                HGVS:
                9.

                rs1486227956 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:1117485 (GRCh38)
                  19:1117484 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:1117484:C:T
                  Gene:
                  SBNO2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  10.

                  rs1486027474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:1113583 (GRCh38)
                    19:1113582 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:1113582:G:A
                    Gene:
                    SBNO2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000047/1 (ALFA)
                    A=0.000009/2 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1485173362 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:1122253 (GRCh38)
                      19:1122252 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:1122252:C:T
                      Gene:
                      SBNO2 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                      HGVS:
                      12.

                      rs1485052780 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:1112890 (GRCh38)
                        19:1112889 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:1112889:C:T
                        Gene:
                        SBNO2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000022/4 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1485033819 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:1122974 (GRCh38)
                          19:1122973 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:1122973:T:C
                          Gene:
                          SBNO2 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          14.

                          rs1484071743 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:1112451 (GRCh38)
                            19:1112450 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:1112450:G:A
                            Gene:
                            SBNO2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000009/2 (GnomAD_exomes)
                            HGVS:
                            16.
                            17.
                            19.

                            rs1480616120 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:1119164 (GRCh38)
                              19:1119163 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:1119163:C:T
                              Gene:
                              SBNO2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.00006/1 (ALFA)
                              HGVS:

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