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Links from Nucleotide

Items: 1 to 20 of 438

1.

rs1486999092 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:112272915 (GRCh38)
    13:112927229 (GRCh37)
    Canonical SPDI:
    NC_000013.11:112272914:C:T
    Gene:
    LOC101928730 (Varview), LOC107984555 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1484703458 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      13:112256752 (GRCh38)
      13:112911066 (GRCh37)
      Canonical SPDI:
      NC_000013.11:112256751:G:T
      Gene:
      LOC101928730 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.00033/5 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.000014/2 (GnomAD)
      T=0.000893/4 (Estonian)
      HGVS:
      3.

      rs1484472302 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        13:112259784 (GRCh38)
        13:112914098 (GRCh37)
        Canonical SPDI:
        NC_000013.11:112259783:G:A,NC_000013.11:112259783:G:T
        Gene:
        LOC101928730 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1481414462 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:112262294 (GRCh38)
          13:112916608 (GRCh37)
          Canonical SPDI:
          NC_000013.11:112262293:A:G
          Gene:
          LOC101928730 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1476682878 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            13:112272990 (GRCh38)
            13:112927304 (GRCh37)
            Canonical SPDI:
            NC_000013.11:112272989:C:A
            Gene:
            LOC101928730 (Varview), LOC107984555 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1475671937 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              13:112272485 (GRCh38)
              13:112926799 (GRCh37)
              Canonical SPDI:
              NC_000013.11:112272484:G:A
              Gene:
              LOC101928730 (Varview), LOC107984555 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1472694864 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                13:112262218 (GRCh38)
                13:112916532 (GRCh37)
                Canonical SPDI:
                NC_000013.11:112262217:C:G
                Gene:
                LOC101928730 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1470861096 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  13:112257153 (GRCh38)
                  13:112911467 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:112257152:G:T
                  Gene:
                  LOC101928730 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000084/1 (ALFA)
                  T=0.000019/5 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1469326348 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:112272793 (GRCh38)
                    13:112927107 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:112272792:A:G
                    Gene:
                    LOC101928730 (Varview), LOC107984555 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1468186338 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      13:112259731 (GRCh38)
                      13:112914045 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:112259730:G:T
                      Gene:
                      LOC101928730 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1467449935 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        13:112259723 (GRCh38)
                        13:112914037 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:112259722:C:A
                        Gene:
                        LOC101928730 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1461388168 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GTC>- [Show Flanks]
                          Chromosome:
                          13:112272339 (GRCh38)
                          13:112926653 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:112272338:GTC:
                          Gene:
                          LOC101928730 (Varview), LOC107984555 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1460349825 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            13:112272504 (GRCh38)
                            13:112926818 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:112272503:C:G,NC_000013.11:112272503:C:T
                            Gene:
                            LOC101928730 (Varview), LOC107984555 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0./0 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1457822512 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              13:112271501 (GRCh38)
                              13:112925815 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:112271500:C:T
                              Gene:
                              LOC101928730 (Varview), LOC107984555 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1457262032 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                13:112262289 (GRCh38)
                                13:112916603 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:112262288:C:T
                                Gene:
                                LOC101928730 (Varview)
                                Functional Consequence:
                                non_coding_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:
                                16.

                                rs1455474920 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  13:112272366 (GRCh38)
                                  13:112926680 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:112272365:C:G
                                  Gene:
                                  LOC101928730 (Varview), LOC107984555 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1454984467 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    13:112272771 (GRCh38)
                                    13:112927085 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:112272770:A:C
                                    Gene:
                                    LOC101928730 (Varview), LOC107984555 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1453649971 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      13:112272948 (GRCh38)
                                      13:112927262 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:112272947:G:T
                                      Gene:
                                      LOC101928730 (Varview), LOC107984555 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000023/6 (TOPMED)
                                      T=0.00005/7 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1452389366 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        13:112271525 (GRCh38)
                                        13:112925839 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:112271524:G:T
                                        Gene:
                                        LOC101928730 (Varview), LOC107984555 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1451313528 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:112262977 (GRCh38)
                                          13:112917291 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:112262976:G:A
                                          Gene:
                                          LOC101928730 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000023/6 (TOPMED)
                                          HGVS:

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