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Links from Protein

Items: 1 to 20 of 312

1.

rs1484471300 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:34848550 (GRCh38)
    7:34888162 (GRCh37)
    Canonical SPDI:
    NC_000007.14:34848549:C:T
    Gene:
    NPSR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1483507720 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      7:34658475 (GRCh38)
      7:34698087 (GRCh37)
      Canonical SPDI:
      NC_000007.14:34658474:T:C
      Gene:
      NPSR1 (Varview), NPSR1-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1480538286 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:34658534 (GRCh38)
        7:34698146 (GRCh37)
        Canonical SPDI:
        NC_000007.14:34658533:G:A
        Gene:
        NPSR1 (Varview), NPSR1-AS1 (Varview)
        Functional Consequence:
        intron_variant,stop_gained,genic_downstream_transcript_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:
        4.

        rs1479935374 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:34848592 (GRCh38)
          7:34888204 (GRCh37)
          Canonical SPDI:
          NC_000007.14:34848591:G:A
          Gene:
          NPSR1 (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:
          5.

          rs1473733516 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:34827426 (GRCh38)
            7:34867038 (GRCh37)
            Canonical SPDI:
            NC_000007.14:34827425:G:A
            Gene:
            NPSR1 (Varview), NPSR1-AS1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1470507052 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:34834411 (GRCh38)
              7:34874023 (GRCh37)
              Canonical SPDI:
              NC_000007.14:34834410:T:C
              Gene:
              NPSR1 (Varview), NPSR1-AS1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1467120948 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                7:34684675 (GRCh38)
                7:34724287 (GRCh37)
                Canonical SPDI:
                NC_000007.14:34684674:G:T
                Gene:
                NPSR1 (Varview), NPSR1-AS1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1457600695 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  7:34684645 (GRCh38)
                  7:34724257 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:34684644:T:G
                  Gene:
                  NPSR1 (Varview), NPSR1-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1454882853 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:34658519 (GRCh38)
                    7:34698131 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:34658518:T:C
                    Gene:
                    NPSR1 (Varview), NPSR1-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1452290032 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:34827595 (GRCh38)
                      7:34867207 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:34827594:A:G
                      Gene:
                      NPSR1 (Varview), NPSR1-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000008/1 (GnomAD)
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1451477873 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        7:34848624 (GRCh38)
                        7:34888236 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:34848623:T:G
                        Gene:
                        NPSR1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1449449698 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:34658505 (GRCh38)
                          7:34698117 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:34658504:T:C
                          Gene:
                          NPSR1 (Varview), NPSR1-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.0001/1 (ALFA)
                          HGVS:
                          13.

                          rs1444302806 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            7:34684612 (GRCh38)
                            7:34724224 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:34684611:G:T
                            Gene:
                            NPSR1 (Varview), NPSR1-AS1 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1443939409 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              7:34684570 (GRCh38)
                              7:34724182 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:34684569:C:T
                              Gene:
                              NPSR1 (Varview), NPSR1-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1442234540 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:34849606 (GRCh38)
                                7:34889218 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:34849605:G:A
                                Gene:
                                NPSR1 (Varview)
                                Functional Consequence:
                                missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1433852698 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  7:34827505 (GRCh38)
                                  7:34867117 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:34827504:G:T
                                  Gene:
                                  NPSR1 (Varview), NPSR1-AS1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.
                                  18.
                                  19.

                                  rs1424178803 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:34658416 (GRCh38)
                                    7:34698028 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:34658415:C:T
                                    Gene:
                                    NPSR1 (Varview), NPSR1-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1418091958 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      7:34684675 (GRCh38)
                                      7:34724288 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:34684675:CC:CCC
                                      Gene:
                                      NPSR1 (Varview), NPSR1-AS1 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCC=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

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