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Links from Nucleotide

Items: 1 to 20 of 128

1.

rs1482782850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    9:136648664 (GRCh38)
    9:139543116 (GRCh37)
    Canonical SPDI:
    NC_000009.12:136648663:A:T
    Gene:
    HSPC324 (Varview), LOC102724193 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000007/1 (GnomAD)
    T=0.000227/1 (Estonian)
    HGVS:
    2.

    rs1476528439 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:136648883 (GRCh38)
      9:139543335 (GRCh37)
      Canonical SPDI:
      NC_000009.12:136648882:G:A
      Gene:
      HSPC324 (Varview), LOC102724193 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1473106416 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:136648676 (GRCh38)
        9:139543128 (GRCh37)
        Canonical SPDI:
        NC_000009.12:136648675:C:T
        Gene:
        HSPC324 (Varview), LOC102724193 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,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:
        4.

        rs1472776198 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          9:136648781 (GRCh38)
          9:139543233 (GRCh37)
          Canonical SPDI:
          NC_000009.12:136648780:G:A,NC_000009.12:136648780:G:C
          Gene:
          HSPC324 (Varview), LOC102724193 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1470444120 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:136649035 (GRCh38)
            9:139543487 (GRCh37)
            Canonical SPDI:
            NC_000009.12:136649034:A:G
            Gene:
            HSPC324 (Varview), LOC102724193 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1463572809 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:136648788 (GRCh38)
              9:139543240 (GRCh37)
              Canonical SPDI:
              NC_000009.12:136648787:G:A
              Gene:
              HSPC324 (Varview), LOC102724193 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1448894006 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:136648814 (GRCh38)
                9:139543266 (GRCh37)
                Canonical SPDI:
                NC_000009.12:136648813:C:T
                Gene:
                HSPC324 (Varview), LOC102724193 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1447792953 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:136648873 (GRCh38)
                  9:139543325 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:136648872:G:A
                  Gene:
                  HSPC324 (Varview), LOC102724193 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  A=0.001092/2 (Korea1K)
                  HGVS:
                  9.

                  rs1446942572 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:136648712 (GRCh38)
                    9:139543164 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:136648711:T:C
                    Gene:
                    HSPC324 (Varview), LOC102724193 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000019/5 (TOPMED)
                    C=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1442291049 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>-,TT [Show Flanks]
                      Chromosome:
                      9:136648687 (GRCh38)
                      9:139543139 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:136648686:TTTTTTT:TTTTTT,NC_000009.12:136648686:TTTTTTT:TTTTTTTT
                      Gene:
                      HSPC324 (Varview), LOC102724193 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      -=0.000071/1 (TOMMO)
                      HGVS:
                      11.

                      rs1431659273 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:136649037 (GRCh38)
                        9:139543489 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:136649036:A:G
                        Gene:
                        HSPC324 (Varview), LOC102724193 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1428382571 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:136648939 (GRCh38)
                          9:139543391 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:136648938:C:T
                          Gene:
                          HSPC324 (Varview), LOC102724193 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1411703315 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            9:136648952 (GRCh38)
                            9:139543404 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:136648951:C:A
                            Gene:
                            HSPC324 (Varview), LOC102724193 (Varview)
                            Functional Consequence:
                            non_coding_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:
                            14.

                            rs1408369024 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:136649012 (GRCh38)
                              9:139543464 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:136649011:G:A
                              Gene:
                              HSPC324 (Varview), LOC102724193 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.00003/8 (TOPMED)
                              HGVS:
                              15.

                              rs1405114224 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:136648870 (GRCh38)
                                9:139543322 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:136648869:C:T
                                Gene:
                                HSPC324 (Varview), LOC102724193 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000019/5 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                T=0.000106/3 (TOMMO)
                                HGVS:
                                16.

                                rs1381111289 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  9:136648807 (GRCh38)
                                  9:139543259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:136648806:C:A,NC_000009.12:136648806:C:G,NC_000009.12:136648806:C:T
                                  Gene:
                                  HSPC324 (Varview), LOC102724193 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  A=0.000248/4 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1371608753 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:136660348 (GRCh38)
                                    9:139554800 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:136660347:A:G
                                    Gene:
                                    EGFL7 (Varview), HSPC324 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1357708096 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:136660405 (GRCh38)
                                      9:139554857 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:136660404:C:T
                                      Gene:
                                      EGFL7 (Varview), HSPC324 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1357515234 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:136649026 (GRCh38)
                                        9:139543478 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:136649025:G:A
                                        Gene:
                                        HSPC324 (Varview), LOC102724193 (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=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1357056466 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:136648785 (GRCh38)
                                          9:139543237 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:136648784:C:T
                                          Gene:
                                          HSPC324 (Varview), LOC102724193 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000023/6 (TOPMED)
                                          HGVS:

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