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Links from Nucleotide

Items: 1 to 20 of 240

1.

rs1490249184 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAG>- [Show Flanks]
    Chromosome:
    15:76259400 (GRCh38)
    15:76551741 (GRCh37)
    Canonical SPDI:
    NC_000015.10:76259397:AGGAG:AG
    Gene:
    ETFA (Varview), TYRO3P (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AG=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1487295934 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:76259748 (GRCh38)
      15:76552089 (GRCh37)
      Canonical SPDI:
      NC_000015.10:76259747:A:G
      Gene:
      ETFA (Varview), TYRO3P (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1484132771 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CAGAGGCT>- [Show Flanks]
        Chromosome:
        15:76259942 (GRCh38)
        15:76552283 (GRCh37)
        Canonical SPDI:
        NC_000015.10:76259933:CAGAGGCTCAGAGGCT:CAGAGGCT
        Gene:
        ETFA (Varview), TYRO3P (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CAGAGGCTCAGAGGCT=0.08827/1047 (ALFA)
        HGVS:
        4.

        rs1483435099 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          15:76259464 (GRCh38)
          15:76551805 (GRCh37)
          Canonical SPDI:
          NC_000015.10:76259463:A:C
          Gene:
          ETFA (Varview), TYRO3P (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000216/4 (ALFA)
          C=0.000035/1 (TOMMO)
          C=0.000057/15 (TOPMED)
          C=0.000057/8 (GnomAD)
          C=0.000684/2 (KOREAN)
          C=0.000893/4 (Estonian)
          C=0.003275/6 (Korea1K)
          HGVS:
          5.

          rs1478480225 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            15:76259548 (GRCh38)
            15:76551889 (GRCh37)
            Canonical SPDI:
            NC_000015.10:76259547:C:G
            Gene:
            ETFA (Varview), TYRO3P (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1477460616 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:76259475 (GRCh38)
              15:76551816 (GRCh37)
              Canonical SPDI:
              NC_000015.10:76259474:G:A
              Gene:
              ETFA (Varview), TYRO3P (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000035/1 (TOMMO)
              A=0.000042/11 (TOPMED)
              A=0.000546/1 (Korea1K)
              A=0.000684/2 (KOREAN)
              HGVS:
              7.

              rs1473467698 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GATCATACA>- [Show Flanks]
                Chromosome:
                15:76259369 (GRCh38)
                15:76551710 (GRCh37)
                Canonical SPDI:
                NC_000015.10:76259367:AGATCATACA:A
                Gene:
                ETFA (Varview), TYRO3P (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1466584305 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  15:76259821 (GRCh38)
                  15:76552162 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:76259820:GGG:GG
                  Gene:
                  ETFA (Varview), TYRO3P (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1466367187 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:76259917 (GRCh38)
                    15:76552258 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:76259916:A:G
                    Gene:
                    ETFA (Varview), TYRO3P (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.072679/1187 (ALFA)
                    G=0.008599/144 (TOMMO)
                    G=0.011294/33 (KOREAN)
                    G=0.012009/22 (Korea1K)
                    G=0.024361/2684 (GnomAD)
                    G=0.069488/445 (1000Genomes)
                    A=0.5/5 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1465123535 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:76259809 (GRCh38)
                      15:76552150 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:76259808:T:C
                      Gene:
                      ETFA (Varview), TYRO3P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1463072527 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        15:76259910 (GRCh38)
                        15:76552251 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:76259909:G:C
                        Gene:
                        ETFA (Varview), TYRO3P (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.00031/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1459117429 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:76259562 (GRCh38)
                          15:76551903 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:76259561:G:A
                          Gene:
                          ETFA (Varview), TYRO3P (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00003/8 (TOPMED)
                          A=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1456562200 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:76259731 (GRCh38)
                            15:76552072 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:76259730:T:C
                            Gene:
                            ETFA (Varview), TYRO3P (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            T=0.5/1 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1452390535 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:76259486 (GRCh38)
                              15:76551827 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:76259485:A:G
                              Gene:
                              ETFA (Varview), TYRO3P (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1449807670 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AG>- [Show Flanks]
                                Chromosome:
                                15:76259688 (GRCh38)
                                15:76552029 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:76259684:GAGAG:GAG
                                Gene:
                                ETFA (Varview), TYRO3P (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GAG=0.000084/1 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1448258431 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:76259878 (GRCh38)
                                  15:76552219 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:76259877:G:A
                                  Gene:
                                  ETFA (Varview), TYRO3P (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1447073258 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    15:76259935 (GRCh38)
                                    15:76552276 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:76259934:A:
                                    Gene:
                                    ETFA (Varview), TYRO3P (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.13534/615 (ALFA)
                                    -=0.01055/177 (TOMMO)
                                    -=0.01474/27 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1446278882 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AGGTCCCCATGC>- [Show Flanks]
                                      Chromosome:
                                      15:76259868 (GRCh38)
                                      15:76552209 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:76259864:TGCAGGTCCCCATGC:TGC
                                      Gene:
                                      ETFA (Varview), TYRO3P (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TGC=0./0 (ALFA)
                                      -=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1441018445 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:76260002 (GRCh38)
                                        15:76552343 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:76260001:G:A
                                        Gene:
                                        ETFA (Varview), TYRO3P (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000169/2 (ALFA)
                                        A=0.00015/21 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1438679935 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:76259912 (GRCh38)
                                          15:76552253 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:76259911:G:A
                                          Gene:
                                          ETFA (Varview), TYRO3P (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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