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Links from Nucleotide

Items: 1 to 20 of 321

1.

rs1488845065 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AGAAAGAAAGAGAAAGAAAGAA>- [Show Flanks]
    Chromosome:
    1:159976951 (GRCh38)
    1:159946741 (GRCh37)
    Canonical SPDI:
    NC_000001.11:159976938:AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA:AGAAAGAAAGAA
    Gene:
    SLAMF9 (Varview), LINC01133 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAAAGAAAGAA=0./0 (ALFA)
    -=0.00004/0 (TOMMO)
    -=0.00332/16 (GnomAD)
    HGVS:
    2.

    rs1486294107 has merged into rs139235417 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAGAAAGAAAGA>-,AAGAAAGA,AAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGA [Show Flanks]
      Chromosome:
      1:159976996 (GRCh38)
      1:159946786 (GRCh37)
      Canonical SPDI:
      NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGA
      Gene:
      SLAMF9 (Varview), LINC01133 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAAAGAAAGAAAGA=0./0 (ALFA)
      -=0.1/4 (GENOME_DK)
      -=0.2155/78 (NorthernSweden)
      -=0.22/2026 (TOMMO)
      GAAA=0.4395/392 (Korea1K)
      HGVS:
      3.

      rs1484787158 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:159978703 (GRCh38)
        1:159948493 (GRCh37)
        Canonical SPDI:
        NC_000001.11:159978702:A:G
        Gene:
        SLAMF9 (Varview), LINC01133 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1484770989 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:159977005 (GRCh38)
          1:159946795 (GRCh37)
          Canonical SPDI:
          NC_000001.11:159977004:A:G
          Gene:
          SLAMF9 (Varview), LINC01133 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.00011/3 (TOMMO)
          HGVS:
          5.

          rs1484106766 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:159976824 (GRCh38)
            1:159946614 (GRCh37)
            Canonical SPDI:
            NC_000001.11:159976823:C:T
            Gene:
            SLAMF9 (Varview), LINC01133 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.001566/7 (ALFA)
            T=0.000022/3 (GnomAD)
            T=0.001339/6 (Estonian)
            HGVS:
            6.

            rs1480993828 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GA>- [Show Flanks]
              Chromosome:
              1:159976944 (GRCh38)
              1:159946734 (GRCh37)
              Canonical SPDI:
              NC_000001.11:159976942:AGA:A
              Gene:
              SLAMF9 (Varview), LINC01133 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              -=0.00081/4 (GnomAD)
              HGVS:
              7.

              rs1480247154 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                1:159961307 (GRCh38)
                1:159931097 (GRCh37)
                Canonical SPDI:
                NC_000001.11:159961306:G:A,NC_000001.11:159961306:G:T
                Gene:
                SLAMF9 (Varview), LINC01133 (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)
                HGVS:
                8.

                rs1474164413 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAA>- [Show Flanks]
                  Chromosome:
                  1:159976947 (GRCh38)
                  1:159946737 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:159976939:GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAA:GAAAGAA
                  Gene:
                  SLAMF9 (Varview), LINC01133 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GAAAGAA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1474044408 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    1:159961298 (GRCh38)
                    1:159931088 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:159961297:T:A
                    Gene:
                    SLAMF9 (Varview), LINC01133 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,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:
                    10.

                    rs1473833903 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:159976645 (GRCh38)
                      1:159946435 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:159976644:G:A
                      Gene:
                      SLAMF9 (Varview), LINC01133 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1473646419 has merged into rs1258051367 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>-,AA,AAA [Show Flanks]
                        Chromosome:
                        1:159976921 (GRCh38)
                        1:159946711 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:159976920:AAA:AA,NC_000001.11:159976920:AAA:AAAA,NC_000001.11:159976920:AAA:AAAAA
                        Gene:
                        SLAMF9 (Varview), LINC01133 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAA=0./0 (ALFA)
                        -=0.00167/1 (GnomAD)
                        HGVS:
                        12.

                        rs1472537919 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:159978748 (GRCh38)
                          1:159948538 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:159978747:C:T
                          Gene:
                          SLAMF9 (Varview), LINC01133 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1471001566 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:159961391 (GRCh38)
                            1:159931181 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:159961390:A:G
                            Gene:
                            SLAMF9 (Varview), LINC01133 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.0055/10 (Korea1K)
                            HGVS:
                            14.

                            rs1470009539 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              1:159976944 (GRCh38)
                              1:159946734 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:159976943:G:A,NC_000001.11:159976943:G:T
                              Gene:
                              SLAMF9 (Varview), LINC01133 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00025/3 (ALFA)
                              HGVS:
                              15.

                              rs1469060673 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:159976859 (GRCh38)
                                1:159946649 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:159976858:A:G
                                Gene:
                                SLAMF9 (Varview), LINC01133 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1467721794 has merged into rs1250722837 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>-,AA [Show Flanks]
                                  Chromosome:
                                  1:159976881 (GRCh38)
                                  1:159946671 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:159976880:AAAAAAAAA:AAAAAAAA,NC_000001.11:159976880:AAAAAAAAA:AAAAAAAAAA
                                  Gene:
                                  SLAMF9 (Varview), LINC01133 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAA=0./0 (ALFA)
                                  -=0.00218/4 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1467410079 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:159976958 (GRCh38)
                                    1:159946748 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:159976957:A:G
                                    Gene:
                                    SLAMF9 (Varview), LINC01133 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1462967778 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:159978737 (GRCh38)
                                      1:159948527 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:159978736:T:G
                                      Gene:
                                      SLAMF9 (Varview), LINC01133 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1461676932 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:159977017 (GRCh38)
                                        1:159946807 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:159977016:A:G
                                        Gene:
                                        SLAMF9 (Varview), LINC01133 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1459959447 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          1:159961387 (GRCh38)
                                          1:159931177 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:159961386:C:
                                          Gene:
                                          SLAMF9 (Varview), LINC01133 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0.000071/1 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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