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Links from Nucleotide

Items: 1 to 20 of 311

1.

rs1485270278 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:9517227 (GRCh38)
    5:9517339 (GRCh37)
    Canonical SPDI:
    NC_000005.10:9517226:T:C
    Gene:
    SEMA5A (Varview), SEMA5A-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1484059514 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      5:9516594 (GRCh38)
      5:9516706 (GRCh37)
      Canonical SPDI:
      NC_000005.10:9516593:A:G
      Gene:
      SEMA5A (Varview), SEMA5A-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000071/1 (TOMMO)
      HGVS:
      3.

      rs1483555786 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:9517384 (GRCh38)
        5:9517496 (GRCh37)
        Canonical SPDI:
        NC_000005.10:9517383:G:A
        Gene:
        SEMA5A (Varview), SEMA5A-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_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.

        rs1480405032 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          5:9517712 (GRCh38)
          5:9517824 (GRCh37)
          Canonical SPDI:
          NC_000005.10:9517711:G:A,NC_000005.10:9517711:G:T
          Gene:
          SEMA5A (Varview), SEMA5A-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1474262552 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:9516810 (GRCh38)
            5:9516922 (GRCh37)
            Canonical SPDI:
            NC_000005.10:9516809:G:A
            Gene:
            SEMA5A (Varview), SEMA5A-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0./0 (GnomAD)
            A=0.000004/1 (TOPMED)
            A=0.000035/1 (TOMMO)
            A=0.000156/1 (1000Genomes)
            G=0.5/1 (SGDP_PRJ)
            HGVS:
            6.

            rs1473710428 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              5:9516686 (GRCh38)
              5:9516798 (GRCh37)
              Canonical SPDI:
              NC_000005.10:9516685:A:T
              Gene:
              SEMA5A (Varview), SEMA5A-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1472065450 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                5:9518061 (GRCh38)
                5:9518173 (GRCh37)
                Canonical SPDI:
                NC_000005.10:9518060:C:A
                Gene:
                SEMA5A (Varview), SEMA5A-AS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1468452793 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:9516886 (GRCh38)
                  5:9516998 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:9516885:C:T
                  Gene:
                  SEMA5A (Varview), SEMA5A-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.00004/1 (TOMMO)
                  HGVS:
                  9.

                  rs1468070473 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    5:9517313 (GRCh38)
                    5:9517425 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:9517312:A:C
                    Gene:
                    SEMA5A (Varview), SEMA5A-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1466066253 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:9517485 (GRCh38)
                      5:9517597 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:9517484:C:T
                      Gene:
                      SEMA5A (Varview), SEMA5A-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1464706419 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        5:9518082 (GRCh38)
                        5:9518194 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:9518081:A:C
                        Gene:
                        SEMA5A (Varview), SEMA5A-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1458958981 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          5:9516782 (GRCh38)
                          5:9516894 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:9516781:G:T
                          Gene:
                          SEMA5A (Varview), SEMA5A-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1458396346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            5:9518015 (GRCh38)
                            5:9518127 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:9518014:C:A
                            Gene:
                            SEMA5A (Varview), SEMA5A-AS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1455255136 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:9517334 (GRCh38)
                              5:9517446 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:9517333:G:A
                              Gene:
                              SEMA5A (Varview), SEMA5A-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1452332723 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:9516586 (GRCh38)
                                5:9516698 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:9516585:G:A
                                Gene:
                                SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1451317452 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:9512021 (GRCh38)
                                  5:9512133 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:9512020:C:T
                                  Gene:
                                  SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,genic_upstream_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:
                                  17.

                                  rs1447158968 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    5:9517893 (GRCh38)
                                    5:9518005 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:9517892:C:A,NC_000005.10:9517892:C:T
                                    Gene:
                                    SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1446950416 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      5:9516826 (GRCh38)
                                      5:9516938 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:9516825:G:T
                                      Gene:
                                      SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,genic_upstream_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:
                                      19.

                                      rs1445678069 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:9518003 (GRCh38)
                                        5:9518115 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:9518002:T:C
                                        Gene:
                                        SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1441818097 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          5:9517159 (GRCh38)
                                          5:9517271 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:9517158:C:A,NC_000005.10:9517158:C:G
                                          Gene:
                                          SEMA5A (Varview), SEMA5A-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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