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Items: 1 to 20 of 608

1.

rs1491385272 has merged into rs60078088 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
    Chromosome:
    9:33954286 (GRCh38)
    9:33954284 (GRCh37)
    Canonical SPDI:
    NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:33954269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
    Gene:
    UBAP2 (Varview), SNORD121A (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACACACAC=0./0 (ALFA)
    -=0./0 (GENOME_DK)
    HGVS:
    NC_000009.12:g.33954270AC[8], NC_000009.12:g.33954270AC[9], NC_000009.12:g.33954270AC[10], NC_000009.12:g.33954270AC[11], NC_000009.12:g.33954270AC[13], NC_000009.12:g.33954270AC[14], NC_000009.12:g.33954270AC[15], NC_000009.12:g.33954270AC[17], NC_000009.12:g.33954270AC[18], NC_000009.12:g.33954270AC[19], NC_000009.12:g.33954270AC[20], NC_000009.12:g.33954270AC[21], NC_000009.12:g.33954270AC[22], NC_000009.12:g.33954270AC[23], NC_000009.12:g.33954270AC[24], NC_000009.12:g.33954270AC[25], NC_000009.12:g.33954270AC[26], NC_000009.12:g.33954270AC[27], NC_000009.12:g.33954270AC[28], NC_000009.12:g.33954270AC[29], NC_000009.12:g.33954270AC[30], NC_000009.12:g.33954270AC[31], NC_000009.12:g.33954270AC[32], NC_000009.12:g.33954270AC[33], NC_000009.12:g.33954270AC[34], NC_000009.11:g.33954268AC[8], NC_000009.11:g.33954268AC[9], NC_000009.11:g.33954268AC[10], NC_000009.11:g.33954268AC[11], NC_000009.11:g.33954268AC[13], NC_000009.11:g.33954268AC[14], NC_000009.11:g.33954268AC[15], NC_000009.11:g.33954268AC[17], NC_000009.11:g.33954268AC[18], NC_000009.11:g.33954268AC[19], NC_000009.11:g.33954268AC[20], NC_000009.11:g.33954268AC[21], NC_000009.11:g.33954268AC[22], NC_000009.11:g.33954268AC[23], NC_000009.11:g.33954268AC[24], NC_000009.11:g.33954268AC[25], NC_000009.11:g.33954268AC[26], NC_000009.11:g.33954268AC[27], NC_000009.11:g.33954268AC[28], NC_000009.11:g.33954268AC[29], NC_000009.11:g.33954268AC[30], NC_000009.11:g.33954268AC[31], NC_000009.11:g.33954268AC[32], NC_000009.11:g.33954268AC[33], NC_000009.11:g.33954268AC[34]

    2.

    rs1491286388 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TACACACACACACACAC [Show Flanks]
      Chromosome:
      9:33954270 (GRCh38)
      9:33954269 (GRCh37)
      Canonical SPDI:
      NC_000009.12:33954270::TACACACACACACACAC
      Gene:
      UBAP2 (Varview), SNORD121A (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
      HGVS:

      3.

      rs1491115319 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
        Chromosome:
        9:33954265 (GRCh38)
        9:33954264 (GRCh37)
        Canonical SPDI:
        NC_000009.12:33954265:A:ACA,NC_000009.12:33954265:A:ACACA,NC_000009.12:33954265:A:ACACACA,NC_000009.12:33954265:A:ACACACACA,NC_000009.12:33954265:A:ACACACACACA,NC_000009.12:33954265:A:ACACACACACACA,NC_000009.12:33954265:A:ACACACACACACACA,NC_000009.12:33954265:A:ACACACACACACACACA,NC_000009.12:33954265:A:ACACACACACACACACACA
        Gene:
        UBAP2 (Varview), SNORD121A (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACA=0./0 (ALFA)
        HGVS:

        4.

        rs1489637416 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:33953554 (GRCh38)
          9:33953552 (GRCh37)
          Canonical SPDI:
          NC_000009.12:33953553:T:C
          Gene:
          UBAP2 (Varview), SNORD121A (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000026/7 (TOPMED)
          C=0.000036/5 (GnomAD)
          HGVS:

          5.

          rs1489600003 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            9:33953472 (GRCh38)
            9:33953470 (GRCh37)
            Canonical SPDI:
            NC_000009.12:33953471:A:G,NC_000009.12:33953471:A:T
            Gene:
            UBAP2 (Varview), SNORD121A (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.33953472A>G, NC_000009.12:g.33953472A>T, NC_000009.11:g.33953470A>G, NC_000009.11:g.33953470A>T, NM_018449.4:c.869T>C, NM_018449.4:c.869T>A, NM_018449.3:c.869T>C, NM_018449.3:c.869T>A, NM_018449.2:c.869T>C, NM_018449.2:c.869T>A, NM_001370066.2:c.755T>C, NM_001370066.2:c.755T>A, NM_001370066.1:c.755T>C, NM_001370066.1:c.755T>A, NM_020867.2:c.710T>C, NM_020867.2:c.710T>A, NM_020867.1:c.710T>C, NM_020867.1:c.710T>A, NM_001370062.2:c.869T>C, NM_001370062.2:c.869T>A, NM_001370062.1:c.869T>C, NM_001370062.1:c.869T>A, NM_001370059.2:c.869T>C, NM_001370059.2:c.869T>A, NM_001370059.1:c.869T>C, NM_001370059.1:c.869T>A, NM_001370064.2:c.596T>C, NM_001370064.2:c.596T>A, NM_001370064.1:c.596T>C, NM_001370064.1:c.596T>A, NM_001370068.2:c.755T>C, NM_001370068.2:c.755T>A, NM_001370068.1:c.755T>C, NM_001370068.1:c.755T>A, NM_001370067.2:c.710T>C, NM_001370067.2:c.710T>A, NM_001370067.1:c.710T>C, NM_001370067.1:c.710T>A, NR_163243.2:n.606T>C, NR_163243.2:n.606T>A, NR_163243.1:n.606T>C, NR_163243.1:n.606T>A, NM_148171.1:c.801T>C, NM_148171.1:c.801T>A, NM_001282529.1:c.68T>C, NM_001282529.1:c.68T>A, NP_060919.4:p.Ile290Thr, NP_060919.4:p.Ile290Asn, NP_001356995.2:p.Ile252Thr, NP_001356995.2:p.Ile252Asn, NP_001356991.2:p.Ile290Thr, NP_001356991.2:p.Ile290Asn, NP_001356988.2:p.Ile290Thr, NP_001356988.2:p.Ile290Asn, NP_001356993.2:p.Ile199Thr, NP_001356993.2:p.Ile199Asn, NP_001356997.2:p.Ile252Thr, NP_001356997.2:p.Ile252Asn, NP_001356996.2:p.Ile237Thr, NP_001356996.2:p.Ile237Asn

            6.

            rs1486623669 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:33953883 (GRCh38)
              9:33953881 (GRCh37)
              Canonical SPDI:
              NC_000009.12:33953882:T:C
              Gene:
              UBAP2 (Varview), SNORD121A (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1483350819 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:33952909 (GRCh38)
                9:33952907 (GRCh37)
                Canonical SPDI:
                NC_000009.12:33952908:A:G
                Gene:
                UBAP2 (Varview), SNORD121A (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                G=0.000071/1 (TOMMO)
                HGVS:

                8.

                rs1482367661 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:33952408 (GRCh38)
                  9:33952406 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:33952407:C:T
                  Gene:
                  UBAP2 (Varview), SNORD121A (Varview)
                  Functional Consequence:
                  500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1480279721 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    9:33953886 (GRCh38)
                    9:33953884 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:33953885:A:C
                    Gene:
                    UBAP2 (Varview), SNORD121A (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0./0 (KOREAN)
                    C=0.0005/1 (Korea1K)
                    HGVS:

                    10.

                    rs1476822112 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:33953429 (GRCh38)
                      9:33953427 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:33953428:T:C
                      Gene:
                      UBAP2 (Varview), SNORD121A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1475782594 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:33954331 (GRCh38)
                        9:33954329 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:33954330:A:G
                        Gene:
                        UBAP2 (Varview), SNORD121A (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000019/5 (TOPMED)
                        HGVS:

                        12.

                        rs1474509267 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:33952400 (GRCh38)
                          9:33952398 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:33952399:T:C
                          Gene:
                          UBAP2 (Varview), SNORD121A (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:

                          13.

                          rs1473389759 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            9:33952697 (GRCh38)
                            9:33952695 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:33952696:G:C
                            Gene:
                            UBAP2 (Varview), SNORD121A (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1472982088 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->CACAC [Show Flanks]
                              Chromosome:
                              9:33954310 (GRCh38)
                              9:33954309 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:33954310::CACAC
                              Gene:
                              UBAP2 (Varview), SNORD121A (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CACAC=0.0002/1 (ALFA)
                              CACAC=0.0002/1 (Estonian)
                              HGVS:

                              15.

                              rs1472856799 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:33953021 (GRCh38)
                                9:33953019 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:33953020:C:T
                                Gene:
                                UBAP2 (Varview), SNORD121A (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1472595334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:33953249 (GRCh38)
                                  9:33953247 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:33953248:T:G
                                  Gene:
                                  UBAP2 (Varview), SNORD121A (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1471842288 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    9:33952896 (GRCh38)
                                    9:33952894 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:33952895:G:A,NC_000009.12:33952895:G:T
                                    Gene:
                                    UBAP2 (Varview), SNORD121A (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1469477100 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      9:33954065 (GRCh38)
                                      9:33954063 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:33954064:C:A
                                      Gene:
                                      UBAP2 (Varview), SNORD121A (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1469427876 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:33953037 (GRCh38)
                                        9:33953035 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:33953036:T:G
                                        Gene:
                                        UBAP2 (Varview), SNORD121A (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1466793285 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          9:33954733 (GRCh38)
                                          9:33954731 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:33954732:A:C,NC_000009.12:33954732:A:G
                                          Gene:
                                          UBAP2 (Varview), SNORD121A (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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